Search Gene Lists

The coverage provided reflects the average percent coverage greater than 20X obtained based on approximately 30 samples for NewbornDxTM. Coverage of a region in a specific patient is not guaranteed.

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Condition Genes Phenotype
A
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia
CYP17A1
ambiguous genitalia, hypertension, hypokalemic alkalosis, elevated ACTH, premature closure of the epiphyses
NewbornDx™Coverage: 100%
17-beta-hydroxysteroid dehydrogenase X deficiency
HSD17B10
developmental regression, hypotonia, epilepsy, progressive vision loss (retinopathy), cardiomyopathy, hearing loss, hypoglycemia
NewbornDx™Coverage: 100%
2,4-dienoyl-CoA reductase deficiency
DECR1
persistent neonatal hypotonia, microcephaly, nystagmus, cortical blindness, encephalopathy, lack of development
NewbornDx™Coverage: 93%
NADK2
failure to thrive, microcephaly, central hypotonia, mild dysmorphic features, respiratory acidosis (can be lethal), little or no development, progressive neurological involvement including nystagmus, hypertonia, clonus, choreoathetosis, dystonia, spastic quadriplegia, cortical blindness, epilepsy, episodic central apnea, progressive leukodystrophy
NewbornDx™Coverage: 84%
2-aminoadipic 2-oxoadipic aciduria
DHTKD1
50% of the time asymptomatic, 50% have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, epilepsy
NewbornDx™Coverage: 97%
2-methylbutyrylglycinuria
ACADSB
developmental delay, poor feeding, lethargy, hypothermia, hypoglycemia, episodes of apnea, epilepsy, hypotonia
NewbornDx™Coverage: 98%
3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
HSD3B2
salt wasting, vomiting, lethary, poor feeding, ambiguous genitalia, low hormone production, male pseudohermaphroditism, hirsutism
NewbornDx™Coverage: 100%
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2
acute episodes of hypoketotic hypoglycemia. vomiting, poor feeding, lethargy, hepatomegaly, risk of coma
NewbornDx™Coverage: 100%
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
HADH
poor growth, liver disease (hepatic necrosis, hepatic steatosis), poor feeding, hypotonia, seizures, hypoglycemia
NewbornDx™Coverage: 99%
3-hydroxyisobutryl-CoA hydrolase deficiency
HIBCH
seizures, developmental delay, hypotonia, Leigh sydnrome, progressive infantile regression
NewbornDx™Coverage: 93%
HMGCL
vomiting, diarrhea, lethargy, hypotonia, hypoglycemia, seizures
NewbornDx™Coverage: 100%
3-M syndrome
CCDC8
poor growth, low birth weight, triangular facies, frontal bossing, hip dysplasia, slender long bones, prominent heels, tall vertebral bodies
NewbornDx™Coverage: 100%
CUL7
severe pre- and postnatal growth retardation, abnormal long bones, delayed bone age, deformed sternum, short thorax, dysmorphic facial features
NewbornDx™Coverage: 100%
OBSL1
short stature, prominent heels, distinctive facial appearance
NewbornDx™Coverage: 97%
3-methylcrotonyl-CoA carboxylase deficiency
MCCC1
feeding difficulties, recurrent episodes of vomiting and diarrhea, lethargy, hypotonia, developmental delay, seizures
NewbornDx™Coverage: 98%
MCCC2
feeding difficulties, recurrent episodes of vomiting and diarrhea, lethargy, hypotonia, developmental delay, seizures
NewbornDx™Coverage: 98%
3-methylglutaconic aciduria
CLPB
encephalopathy, congenital neutropenia, microcephaly, movement abnormalities, delayed psychomotor development, recurrent infections, cataracts
NewbornDx™Coverage: 100%
DNAJC19
dilated cardiomyopathy, microcytic anemia, poor growth, mild ataxia, muscle weakness, genital anomalies in males, optic atrophy, developmental delay, hepatic steatosis, elevated 3-methylglutaconic acid in urine
NewbornDx™Coverage: 98%
OPA3
optic atrophy, nystagmus, strabismus, ataxia, chorea, spasticity, elevated 3-methylglutaconic acid
NewbornDx™Coverage: 100%
3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like Syndrome
SERAC1
elevated urine levels of 3-methylglutaconic acid, progressive sensorineural hearing loss, encephalopathy, failure to thrive, hypotonia, dystonia, hypoglycemia, developmental delay
NewbornDx™Coverage: 100%
3-methylglutaconyl-CoA hydratase deficiency
AUH
developmental delay, dystonia, spastic quadriparesis, optic atrophy, ataxia, leukoencephalopathy, metabloic acidosis, elevated 3-methylglutaconic acid in urine
NewbornDx™Coverage: 100%
3MC syndrome
MASP1
hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows, cleft lip and palate, postnatal growth deficiency, cognitive impairment
NewbornDx™Coverage: 100%
46XY sex reversal
NR5A1
primary adrenal failure during infancy, complete gonadal dysgenesis, external genital abnormalities (some cases)
NewbornDx™Coverage: 100%
5-oxoprolinase deficiency
OPLAH
increased 5-oxoproline excretion in urine
NewbornDx™Coverage: 100%
6-pyruvoyltetrahydropterin synthase deficiency
PTS
microcephaly, poor feeding infancy, hypersalivation, hypotonia, hyperreflexia, developmental delay, pooring sucking, swallowing difficulties, seizures, dystonia, episodic hyperthermia, oculogyric crises, irritability, decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF
NewbornDx™Coverage: 87%
Aarskog-Scott syndrome
FGD1
short stature, hypertelorism, shawl scrotum, brachydactyly
NewbornDx™Coverage: 96%
Abnormal insulin secretion
TFB1M
impaired insulin secretion, diabetes
NewbornDx™Coverage: 100%
Achalasia-addisonianism-alacrimia syndrome
AAAS
microcephaly, alacrima, anisocoria, optic atrophy, achalasia, autonomic dysfunction, hyperpigmentation, hyperkeratosis of palms and soles, distal muscle weakness, developmental delay, mental retardation, ACTH-resistent adrenal insufficiency
NewbornDx™Coverage: 100%
Achondrogenesis
COL2A1
short arms and legs, underdeveloped pelvic bones, flattened spinal bones, short fingers and toes, small chest with short ribs
NewbornDx™Coverage: 100%
SLC26A2
malformations of the hands, feet, knees, scoliosis, disorder of cartilage and bone development
NewbornDx™Coverage: 100%
TRIP11
deficient ossification in the lumbar vertebrae, absent ossification in the sacral, pubic and ischial bones
NewbornDx™Coverage: 94%
Achondroplasia
FGFR3
short stature, rhizomelic shortening of arms and legs, limited elbow extension, short fingers, trident configuration of hands, genu varum, thoracolumbar kyphosis, large head with frontal bossing, midfacial retrusion, depressed nasal bridge
NewbornDx™Coverage: 100%
Acro-renal-ocular syndrome
SALL4
radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), ocular coloboma, Duane anomaly, SNHL
NewbornDx™Coverage: 100%
Acrocapitofemoral dysplasia
IHH
disproportionate short stature, short limbs with brachydactyly, normal head size, narrow thorax, pectrum abnormality, cone-shaped epiphyses, small and board nails, normal intelligence
NewbornDx™Coverage: 100%
Acrodermatitis enteropathica
SLC39A4
growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea
NewbornDx™Coverage: 100%
Acrodysostosis with or without hormone resistance
PDE4D
short stature, severe brachydactyly, facial dysostosis, nasal hypoplasia
NewbornDx™Coverage: 99%
Acrofacial dysostosis
SF3B4
downslanted palpebral fissures, midface retrusion, micrognathia requiring tracheostomy, limb anomalies including small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, radioulnar synostosis
NewbornDx™Coverage: 98%
Acromesomelic chondrodysplasia
GDF5
shortening of hands and feet, fingers and toes lack articulation and appear as skin appendages
NewbornDx™Coverage: 100%
Acromesomelic dysplasia
BMPR1B
disproportionate shortening of the appendicular skeleton
NewbornDx™Coverage: 100%
Acute intermittent Porphyria
HMBS
severe, acute abdominal pain without physical signs, nausea, vomiting, constipation, tachycardia, hypertension, urine may be reddish-brown or red
NewbornDx™Coverage: 98%
Acute necrotizing encephalopathy
RANBP2
triggered by febrile illness, vomiting, seizures, spasticity, rigidity or abnormal posturing, altered mental status, and altered breathing patterns, usually leading to coma. Some have residual neurological defects others fully recover.
NewbornDx™Coverage: 92%
Acute recurrent myoglobinuria
LPIN1
recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine
NewbornDx™Coverage: 99%
Acyl-CoA dehydrogenase deficiency
ACAD9
acute metabolic acidosis, cardiomyopathy, muscle weakness, hypotonia, lactic acidosis, liver dysfunction, hypoglycemia
NewbornDx™Coverage: 100%
Adams-Oliver syndrome
ARHGAP31
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 100%
DOCK6
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 99%
EOGT
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 97%
NOTCH1
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 99%
Adenine phosphoribosyltransferase deficiency
APRT
renal colic, hematuria, urinary tract infection, dysuria, renal failure
NewbornDx™Coverage: 100%
Adenosine kinase deficiency
ADK
macrocephaly, hypertelorism, seizures, failure to thrive, global developmental delay, hypotonia, white matter degeneration, hyperbilirubinemia, hypermethioninemia
NewbornDx™Coverage: 91%
Adrenal hypoplasia congenita
NR0B1
vomiting, difficulty with feeding, dehydration, hypoglycemia, shock due salt wasting, hyperpigmentation of the skin, cryptorchidism
NewbornDx™Coverage: 100%
Adrenocorticotropic hormone deficiency
TBX19
congential isolated ACTH, severe hypoglycemia, low or absent cortisol, low plasma ACTH
NewbornDx™Coverage: 100%
Adult polyglucosan body disease
GBE1
severe hypotonia, dilated cardiomyopathy, respiratory distress
NewbornDx™Coverage: 99%
Agammaglobulinemia
BLNK
recurrent infections, absence of IgG, IgM, IgA
NewbornDx™Coverage: 95%
BTK
lack of mature B lymphocytes
NewbornDx™Coverage: 99%
CD79A
low or absent serum antibodies, low or absent circulating B-cells
NewbornDx™Coverage: 100%
CD79B
low or absent serum antibodies, low or absent circulating B-cells
NewbornDx™Coverage: 100%
IGHM
failure to thrive, recurrent ear and respiratory infections, diarrhea, absent or severely reduced numbers of B cells, agammaglobulinemia
NewbornDx™Coverage: 87%
IGLL1
recurrent infections, hypogammaglobulinemia, absent B cells
NewbornDx™Coverage: 81%
LRRC8A
congenital agammaglobulinemia, risk of infections
NewbornDx™Coverage: 100%
Agammaglobulinemia and isolated hormone deficiency
BTK
lack of mature B lymphocytes
NewbornDx™Coverage: 99%
AICA-ribosiduria due to ATIC deficiency
ATIC
epilepsy, optic atrophy, bilateral pigmented chorioretinal macular lesion, dysmorphic facial feature, severe intellectual disbaility
NewbornDx™Coverage: 95%
Aicardi-Goutieres syndrome
ADAR
encephalopathy, brain malformations, severe intellectual, microcephaly, irritability, loss of skills, dystonia
NewbornDx™Coverage: 100%
IFIH1
neonatal or infantile onset of growth retardation, irritability, poor feeding, axial hypotonia, delayed psychomotor development, progressive microcephaly, spastic-dystonic tetraparesis, regression, cerebral atrophy with basal ganglia calcifications and abnormal T2-weighted signal abnormalities in the deep white matter
NewbornDx™Coverage: 97%
RNASEH2A
early-onset encephalopathy, significant intellectual disability, calcification of the basal ganglia, white matter changes, cerebral atrophy, elevated interferon-alpha and neopterin in CSF, Chilblain lesions on the feet, hands, ears, and sometimes more generalized mottling of the skin, microcephaly, dystonia
NewbornDx™Coverage: 100%
RNASEH2B
early-onset encephalopathy, significant intellectual disability, calcification of the basal ganglia, white matter changes, cerebral atrophy, elevated interferon-alpha and neopterin in CSF, Chilblain lesions on the feet, hands, ears, and sometimes more generalized mottling of the skin, microcephaly, dystonia
NewbornDx™Coverage: 85%
RNASEH2C
early-onset encephalopathy, significant intellectual disability, calcification of the basal ganglia, white matter changes, cerebral atrophy, elevated interferon-alpha and neopterin in CSF, Chilblain lesions on the feet, hands, ears, and sometimes more generalized mottling of the skin, microcephaly, dystonia
NewbornDx™Coverage: 100%
SAMHD1
early-onset encephalopathy, significant intellectual disability, calcification of the basal ganglia, white matter changes, cerebral atrophy, elevated interferon-alpha and neopterin in CSF, Chilblain lesions on the feet, hands, ears, sometimes more generalized mottling of the skin, microcephaly, dystonia
NewbornDx™Coverage: 99%
TREX1
hepatosplenomegaly, elevated liver enzymes, thrombocytopenia, severe encephalopathy, chilblain skin lesions (fingers, toes, and ears), severe intellectual disability
NewbornDx™Coverage: 100%
Alacrima, achalasia, and mental retardation syndrome
GMPPA
alacrima, achalasia, dysphagia, feeding difficulties, global developmental delay, no adrenal insufficiency
NewbornDx™Coverage: 100%
Alagille syndrome
JAG1
liver disease, cholestasis, jaundice, hyperbilirubinemia, posterior embryotoxon, butterfly vertebrae, cardiac malformation
NewbornDx™Coverage: 99%
NOTCH2
bile duct paucity, cardiac defect, butterfly vertebrae, posterior embryotoxon, facial dysmorphism
NewbornDx™Coverage: 100%
Alexander disease
GFAP
seizures, hydrocephalus, severe motor and intellectual disability, elevated CSF protein concentration, white matter changes, seizures
NewbornDx™Coverage: 95%
Allan-Herndon-Dudley syndrome
SLC16A2
microcephaly, elongated face, abnormal eye movements, poor feeding, joint contractures, hypotonia, severe global developmental delay, hyperreflexia
NewbornDx™Coverage: 93%
Alpers-Huttenlocher syndrome
POLG
severe encephalopathy with intractable epilepsy, hepatic failure
NewbornDx™Coverage: 100%
Alpha-1-antitrypsin deficiency
SERPINA1
chronic obstructive pulmonary disease, liver disease
NewbornDx™Coverage: 100%
Alpha-ketoglutarate dehydrogenase deficiency
OGDH
hypotonia, congenital lactic acidosis, metabolic acidosis, hypoglycemia
NewbornDx™Coverage: 100%
Alpha-mannosidosis
MAN2B1
macrocephaly, sensorineural hearing loss, coarse facies, dysostosis multiplex, hypotonia, hepatomegaly, splenomegaly, macroglossia, gingival hypertrophy
NewbornDx™Coverage: 100%
Alpha-thalassemia intellectual disability syndrome
ATRX
postnatal growth deficiency, microcephaly, absent frontal sinuses, intellectual disability, mild form of hemoglobin H (Hb H) disease, mild hypochromic microcytic anemia, dysmorphic features, renal agenesis, genital abnormalities
NewbornDx™Coverage: 91%
Alstrom syndrome
ALMS1
cone-rod dystrophy, dilated cardiomyopathy, progressive sensorineural hearing loss, insulin resistance, obesity, nystagmus, photophobia, normal intelligence
NewbornDx™Coverage: 99%
Alternating hemiplegia of childhood
ATP1A3
recurrent hemiplegia, progressive cognitive decline
NewbornDx™Coverage: 99%
Alveolar capillary dysplasia with misalignment of pulmonary veins
FOXF1
failure of formation and ingrowth of alveolar capillaries, respiratory distress
NewbornDx™Coverage: 100%
Amelogenesis imperfecta
LAMB3
blistering with little or no trauma
NewbornDx™Coverage: 100%
Aminoacylase deficiency
ACY1
intellectual disability, seizures, hypotonia, and motor delay
NewbornDx™Coverage: 100%
Amish infantile epilepsy syndrome
ST3GAL5
refractory and recurrent seizures, delayed psychomotor development, hypotonia, no speech or language development, choreoathetoid-like movements, hyperreflexia in the lower limbs, hyporeflexia in the upper limbs, poor feeding, cortical visual impairment
NewbornDx™Coverage: 93%
Amish lethal microcephaly
SLC25A19
microcephaly, micrognathia, hypoplastic cerebellum, partial agenesis of the corpus callosum, hypoplastic pons, immature brain with no gyral development, hypotonia, limb hypertonia, contractures, hepatomegaly associated with infection
NewbornDx™Coverage: 100%
Anauxetic dysplasia
POP1
bone-restricted disorder, generalized metaphyseal dysplasia and severe brachydactyly, severe short stature
NewbornDx™Coverage: 0%
Andermann syndrome
SLC12A6
agenesis of the corpus callosum, hypotonia, progressive symmetric limb weakness, restrictive respiratory disease, joint contractures, ptosis, facial asymmetry, motor and sensory peripheral neuropathy
NewbornDx™Coverage: 99%
Andersen syndrome
KCNJ2
dysmorphic features, cardiac arrhythmia, potassium-sensitive periodic paralysis
NewbornDx™Coverage: 100%
Anemia
GATA1
thrombocytopenia and/or anemia ranging from mild to severe
NewbornDx™Coverage: 100%
Angelman Syndrome
UBE3A
postnatal microcephaly, global developmental delay, ataxia, seizures, sleeping disturbances, excitable demeanor, ocular hypopigmentation, protruding tongue, feeding difficulties in neonatal period, hypotonia
NewbornDx™Coverage: 100%
Aniridia, Peter anomaly
PAX6
complete or partial iris hypoplasia, reduced visual acuity, nystagmus
NewbornDx™Coverage: 100%
Antenatal corticosteroid exposure, risk factor
CRHBP
risk for small gestational age
NewbornDx™Coverage: 0%
Antley-Bixler syndrome
POR
radiohumeral synostosis, midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system)
NewbornDx™Coverage: 100%
Aortic valve disease
NOTCH1
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 99%
SMAD6
congenital cardiovascular malformation
NewbornDx™Coverage: 95%
Apert syndrome
FGFR2
turribrachycephalic skull shape, moderate-to-severe midface hypoplasia, syndactyly of fingers
NewbornDx™Coverage: 100%
Argininemia
ARG1
regression, spasticity, slowed growth, post-natal microcephaly
NewbornDx™Coverage: 100%
Argininosuccinic aciduria
ASL
hyperammonemia, vomiting, lethargy, refusing feeds, hepatomegaly, trichorrhexis nodosa (coarse and friable hair), tachypnea
NewbornDx™Coverage: 100%
Aromatic L-amino acid decarboxylase deficiency
DDC
hypotonia, poor feeding, hyperreflexia, impaired voluntary movements, irritability, sleep disturbances
NewbornDx™Coverage: 99%
Arrhythmogenic right ventricular dysplasia
PKP2
right ventricular cardiomyopathy, fibrofatty replacement of right ventricular myocardium, venticular arrhythmia and aneurysm, syncope
NewbornDx™Coverage: 98%
TMEM43
arrhythmogenic right ventricular dysplasia
NewbornDx™Coverage: 96%
Arrhythmogenic right ventricular dysplasia, mild palmoplantar keratoderma and woolly hair
DSC2
ventricular arrhythmia, syncope, palpitations, palmoplantar keratoderma, wooly hair
NewbornDx™Coverage: 99%
Arterial tortuosity syndrome
SLC2A10
tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, diffuse tortuosity of the carotids and intracranial arteries
NewbornDx™Coverage: 100%
Arthrogryposis multiplex congenita, distal, type 1
TPM2
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
Arthrogryposis, mental retardation, and seizures
SLC35A3
microcephaly, microretrognathia, joint contractures, hip dislocations, knee dislocation, hypotonia, abnormal distal phalanges, global developmental delay, absence seizures
NewbornDx™Coverage: 97%
Arthrogryposis-renal dysfunction-cholestasis syndrome
VIPAS39
arthrogryposis, renal tubular dysfunction, cholestasis
NewbornDx™Coverage: 100%
VPS33B
microcephaly, failure to thrive, congenital heart defects, cholestatic liver disease, renal tubular acidosis, arthrogryposis multiplex congenita, fractures at birth, hypotonia, global developmental delay, metabolic acidosis
NewbornDx™Coverage: 100%
Arts syndrome
PRPS1
hyperuricemia, neurodevelopmental abnormalities, sensorineural deafness
NewbornDx™Coverage: 99%
Asparagine synthetase deficiency
ASNS
progressive postnatal microcephaly, poor feeding, failure to thrive, cortical blindness
NewbornDx™Coverage: 99%
Aspartylglucosaminuria
AGA
delayed speech, osteoporosis, coarse facies, hepatosplenomegaly, progressive mental retardation
NewbornDx™Coverage: 100%
Asthma, drug response
CRHR1
enhance response to inhaled corticosteroid therapy for asthma
NewbornDx™Coverage: 99%
Ataxia with oculomotor apraxia and hypoalbuminemia
APTX
cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia, hypoalbuminemia
NewbornDx™Coverage: 94%
Ataxia-oculomotor apraxia
PNKP
progressive microcephaly, hypotonia, muscle atrophy, infantile onset seizures, brain malformations, simplified gyral pattern, thin corpus callosum, clinical variability
NewbornDx™Coverage: 100%
Ataxia-telangiectasia
ATM
gait and truncal ataxia, head tilting, slurred speech, oculomotor apraxia
NewbornDx™Coverage: 97%
Ataxia-telangiectasia-like disorder
MRE11A
progressive ataxia, ocular apraxia, cerebellar vermis hypoplasia, dysarthria, myoclonus,
NewbornDx™Coverage: 93%
Atelosteogenesis
SLC26A2
malformations of the hands, feet, knees, scoliosis, disorder of cartilage and bone development
NewbornDx™Coverage: 100%
Atrial septal defect
CITED2
congenital structural cardiac defects
NewbornDx™Coverage: 100%
MYH6
hypertrophic cardiomyopathy, atrial septal defect (ASD)
NewbornDx™Coverage: 100%
TBX20
various cardiac anomalies
NewbornDx™Coverage: 100%
Atrioventricular septal defect
CRELD1
partial atrioventricular septal defect, dextrocardia, pulmonary atresia, right aortic arch, aorta arises from right ventricle
NewbornDx™Coverage: 100%
GJA1
congestive cardiac failure, atrioventricular canal defect
NewbornDx™Coverage: 100%
Auriculocondylar syndrome
GNAI3
first and second pharyngeal arches, malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, mandibular condyle hypoplasia
NewbornDx™Coverage: 100%
PLCB4
mild to severe micrognathia, cleft palate, distinctive ear malformation (separation of lobule from external ear, question mark appearance), temporomandibular joint ankylosis
NewbornDx™Coverage: 94%
Autoimmune lymphoproliferative syndrome
CASP10
nonmalignant adenopathy, hepatosplenomegaly, and Coombs-positive hemolytic anemia
NewbornDx™Coverage: 100%
CTLA4
thrombocytopenia, chronic lymphocytic enteropathy, diarrhea, hypogammaglobulinemia
NewbornDx™Coverage: 100%
FAS
non-malignant lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune disease
NewbornDx™Coverage: 100%
FASLG
non-malignant lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune disease
NewbornDx™Coverage: 100%
PRKCD
B-cell deficiency, severe autoimmunity, recurrent infections, hepatosplenomegaly, generalized lymphadenopathy, autoimmune nephrotic syndrome
NewbornDx™Coverage: 100%
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
PLCG2
cutaneous urticaria, erythema, pruritis in response to cold exposure
NewbornDx™Coverage: 98%
Axenfeld-Rieger syndrome
FOXC1
glaucoma, iris hypoplasia, schwalbe line, hearing loss, flat midface, hypodonia, small teeth
NewbornDx™Coverage: 68%
PITX2
variable anterior chamber anomalies, bilateral annular limbal dermoids with corneal and conjunctival extension, ocular anterior segment dysgenesis and central corneal opacification, visual loss due to glaucoma, dental hypoplasia, failure of involution of periumbilical skin, maxillary hypoplasia
NewbornDx™Coverage: 100%
Ayme-Gripp syndrome
MAF
congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, postnatal short stature
NewbornDx™Coverage: 79%
B
B-cell expansion with NFKB and T-cell anergy
CARD11
recurrent respiratory infections, normal number of T and B cells, hypogammaglobulinemia
NewbornDx™Coverage: 99%
Bainbridge-Ropers syndrome
ASXL3
failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, short stature, ulnar deviation of the hands
NewbornDx™Coverage: 99%
Bamforth-Lazarus syndrome
FOXE1
thyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, bifid epiglottis
NewbornDx™Coverage: 98%
Band-like calcification, simplified gyration, polymicrogyria
OCLN
microcephaly, severe mental retardation, quadriplegia, calcification of the cerebral white matter, seizures
NewbornDx™Coverage: 97%
Bannayan-Riley-Ruvalcaba syndrome
PTEN
Cowden syndrome (macrocephaly, trichilemmomas, papillomatous papules, risk of benign and malignant tumors), Bannayan-Riley-Ruvalcaba syndrome (macrocephaly, intestinal hamartomatous polyposis, lipomas, pigmented macules of the glans penis), Proteus syndrome (hamartomatous overgrowth of multiple tissues, connective tissue nevi, epidermal nevi, hyperostoses), Proteus-like syndrome
NewbornDx™Coverage: 95%
Baraitser-Winter syndrome
ACTB
hypertelorism, facial dysmorphism, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, pachygyria
NewbornDx™Coverage: 100%
ACTG1
hypertelorism, facial dysmorphism, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, pachygyria
NewbornDx™Coverage: 100%
Bardet-Biedl syndrome
ARL6
postaxial polydactyly, brachydactyly, renal hypoplasia/renal anomalies, retinal dystrophy, developmental delay, intellectual disability
NewbornDx™Coverage: 93%
BBIP1
retinitis pigmentosa, obesity, renal dysfunction, intellectual disability
NewbornDx™Coverage: 100%
IFT27
morbid obesity, mild intellectual disability, polydactyly of all extremities, renal failure, retinitis pigmentosa, hypogonadism
NewbornDx™Coverage: 100%
LZTFL1
rod-cone dystrophy, truncal obesity, hypoglycemia, postaxial polydactyly, cognitive impairment, genitourinary malformations, renal abnormalities
NewbornDx™Coverage: 92%
MKKS
postaxial polydactyly, congenital heart disease, hydrometrocolpos (females), genital malformations, rod-cone dystrophy, truncal obesity, renal abnormalities
NewbornDx™Coverage: 100%
MKS1
cystic renal disease, central nervous system malformation, polydactyly, retinal degeneration
NewbornDx™Coverage: 100%
Barth syndrome
TAZ
dilated cardiomyopathy, myopathy, neutropenia, hypotonia, short stature, growth delay, feeding difficulties, mild learning disabilities
NewbornDx™Coverage: 96%
Bartter syndrome
BSND
failure to thrive, sensorineural hearing loss, chronic renal failure, hypotonia, delayed motor development, intellectual disability
NewbornDx™Coverage: 100%
CLCNKB
polyhydramnios, low birth weight, dehydration, constipation, polyuria, osteopenia, nephrocalcinosis
NewbornDx™Coverage: 100%
SLC12A1
renal tubular hypokalemic alkalosis
NewbornDx™Coverage: 99%
Basal cell nevus syndrome
PTCH1
multiple nevoid basal-cell epitheliomas, jaw cysts, bifid rib
NewbornDx™Coverage: 99%
PTCH2
multiple nevoid basal-cell epitheliomas, jaw cysts, bifid rib
NewbornDx™Coverage: 98%
Beare-Stevenson syndrome
FGFR2
turribrachycephalic skull shape, moderate-to-severe midface hypoplasia, syndactyly of fingers
NewbornDx™Coverage: 100%
Becker muscular dystrophy
DMD
progressive symmetric muscle weakness and atrophy, preservation of neck flexor muscle strength
NewbornDx™Coverage: 98%
Beckwith-Wiedemann syndrome
CDKN1C
hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors, visceromegaly, adrenocortical cytomegaly, renal abnormalities, ear creases/pits
NewbornDx™Coverage: 75%
Benign familial epilepsy
KCNQ2
seizures (clonic and tonic), generalized stiffening, global developmental delay, intellectual disability, hypotonia, dystonia, spastic quadriparesis, automatisms
NewbornDx™Coverage: 99%
KCNQ3
seizures (febrile, tonic-clonic, focal clonic), onset of seizures in days 2-8 of life, seizures remit by 2 months
NewbornDx™Coverage: 99%
PRRT2
episodic kinesigenic dyskinesia, episodic involuntary movements (dyskinesia, choreoathetosis, dystonia), orofacial dyskinesia, incomplete penetrance, favorable response to anticonvulsants
NewbornDx™Coverage: 100%
SCN2A
mild cerebral atrophy with wider left lateral ventricle, severe intellectual and psychomotor retardation
NewbornDx™Coverage: 97%
Benign hereditary chorea
NKX2-1
neonatal respiratory distress, recurrent respiratory infections, global developmental delay, hypotonia, choreoathetosis, ataxia, dystonia, dysarthia, general hypothyroidism, increased TSH
NewbornDx™Coverage: 100%
Bent bone dysplasia syndrome
FGFR2
turribrachycephalic skull shape, moderate-to-severe midface hypoplasia, syndactyly of fingers
NewbornDx™Coverage: 100%
Berardinelli-Seip congenital lipodystrophy
AGPAT2
near absence of adipose tissue from birth or early infancy
NewbornDx™Coverage: 96%
Bernard-Soulier syndrome
GP1BA
moderate bleeding tendency, easy bruising, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 99%
GP1BB
moderate bleeding tendency, easy bruising, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 83%
GP9
moderate bleeding tendency, easy bruising, or prolonged bleeding, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 100%
Beta-ketothiolase deficiency
ACAT1
vomiting, episodic ketoacidosis, dehydration, hypoglycemia
NewbornDx™Coverage: 0%
Beta-thalassemia
HBB
swelling of the hands and feet, pallor, jaundice, pneumococcal sepsis or meningitis, severe anemia with splenic enlargement, acute chest syndrome
NewbornDx™Coverage: 100%
Beta-ureidopropionase deficiency
UPB1
neonatal hypotonia, global developmental delay
NewbornDx™Coverage: 100%
Bethlem myopathy
COL12A1
proximal myopathy, joint contractures, hypotonia
NewbornDx™Coverage: 99%
BH4-deficient hyperphenylalaninemia
GCH1
poor feeding, swallowing difficulties, hypotonia, hyperphenylalaninemia, seizures, abnormal ocular movements, irritability, lethargy, rigidity
NewbornDx™Coverage: 94%
PCBD1
hyperphenylalaninemia, mild and transient hypotonia, mild and transient hypertonia
NewbornDx™Coverage: 100%
QDPR
microcephaly, poor feeding infancy, hypersalivation, hypotonia, hyperreflexia, developmental delay, pooring sucking, swallowing difficulties, seizures, dystonia, episodic hyperthermia, oculogyric crises, irritability, decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF, intracerebral calcifications
NewbornDx™Coverage: 100%
Bilateral frontoparietal polymicrogyria
ADGRG1
motor and congnitive delay, estropia, strabimus, cerebellar ataxia, seizures
NewbornDx™Coverage: 100%
Biotinidase deficiency
BTD
hypotonia, seizures, respiratory problems, sensorineural hearing loss, optic atrophy, skin rash, alopecia, recurrent infections
NewbornDx™Coverage: 98%
Blepharophimosis, epicanthus inversus, and ptosis
FOXL2
blepharophimosis, ptosis, epicanthus inversus syndrome (with or without premature ovarian failure)
NewbornDx™Coverage: 93%
Bloom syndrome
BLM
IUGR, erythematous skin lesion in 'butterfly shape' on face after sun exposure
NewbornDx™Coverage: 97%
Bohring-Opitz syndrome
ASXL1
severe IUGR, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints
NewbornDx™Coverage: 99%
Borjeson-Forssman-Lehmann syndrome
PHF6
microcephaly, characteristic facies, obesity, epilepsy, hypogonadism, mental deficiency
NewbornDx™Coverage: 78%
Bosch-Boonstra-Schaaf optic atrophy syndrome
NR2F1
decreased vision, pale optic nerves, developmental delay, intellectual disability
NewbornDx™Coverage: 90%
Brachiootic syndrome
SIX1
hearing loss (SNHL, conductive or mixed), structural anomalies of inner, middle and outer ear (preauricular pits, microtia, cup-shaped ears, malformed or hypoplastic pinnae), branchial fistulas or cysts, no renal anoamlies
NewbornDx™Coverage: 100%
Brachydactyly
BMP2
malformations of the middle phalanx of the index finger, anomalies of the second toe
NewbornDx™Coverage: 100%
BMPR1B
disproportionate shortening of the appendicular skeleton
NewbornDx™Coverage: 100%
HOXD13
short and broad distal phalanges of thumbs and great toes, normal growth
NewbornDx™Coverage: 89%
PTHLH
short stature, short metacarpals III-V, short metatarsals, learning disability (some cases)
NewbornDx™Coverage: 97%
Brachydactyly-mental retardation syndrome
HDAC4
brachydactyly, developmental delay, dysmorphic facial features
NewbornDx™Coverage: 100%
Branched-chain ketoacid dehydrogenase kinase deficiency
BCKDK
epilepsy, intellectual disability, reduced plasma branched-chain amino acids
NewbornDx™Coverage: 100%
Branchiooculofacial syndrome
TFAP2A
branchial cleft sinus defects, developmental ocular anomalies, dysmorphic facial appearance, cleft or pseudocleft lip/palate
NewbornDx™Coverage: 100%
Branchiootorenal spectrum disorders
EYA1
hearing loss (SNHL, conductive or mixed), structural anomalies of inner, middle and outer ear, renal dysplasia/aplasia, polycystic kidneys, renal collecting system anomalies
NewbornDx™Coverage: 94%
SIX5
hearing loss, structural anomalies of inner, middle and outer ear, branchial fistulas or cysts, renal anoamlies
NewbornDx™Coverage: 91%
Brown-Vialetto-Van Laere syndrome
SLC52A2
hearing loss, weakness of limbs and neck, bulbar weakness leading to feeding difficulties, balance and gait problems, dyspnea or stridor
NewbornDx™Coverage: 100%
SLC52A3
hearing loss, weakness of limbs and neck, bulbar weakness leading to feeding difficulties, balance and gait problems, dyspnea or stridor
NewbornDx™Coverage: 100%
Bruck syndrome
PLOD2
congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, progressive scoliosis
NewbornDx™Coverage: 90%
Brugada syndrome
SCN1B
ST segment elevation in the right precordial electrocardiogram leads
NewbornDx™Coverage: 95%
SCN5A
syncope, presyncope, dizziness, fatigue, sinus bradycardia, sinus arrest, sinoatrial block, absent P waves, atrial inexcitability, prolonged QRS duration, prolonged His-ventricle conduction time, ventricular escape rhythms, atrial arrhythmias, intraventricular conduction defects, progressive alteration of cardiac conduction
NewbornDx™Coverage: 100%
Buschke-Ollendorff syndrome
LEMD3
multiple subcutaneous nevi or nodules
NewbornDx™Coverage: 98%
C
Caffey disease
COL1A1
irritability, fever, soft tissue swelling, subperiosteal cortical hyperostosis of the diaphyses of the long bones, ribs, scapulea, clavicles, mandible
NewbornDx™Coverage: 99%
CAKUT with or without VACTERL
TRAP1
congential kidney and urinary tract abnrormalities
NewbornDx™Coverage: 99%
Campomelic dysplasia
SOX9
congenital bowing and angulation of long bones, skeletal and extraskeletal defects
NewbornDx™Coverage: 100%
Camurati-Engelmann disease
TGFB1
cortical thickening of the diaphyses of the long bones, limb pain, muscular weakness, anemia, leukopenia, hepatosplenomegaly
NewbornDx™Coverage: 100%
Canavan disease
ASPA
neonatal form normal until 3-5 months, no development of motor skills, hypotonia, macrocephaly, irritability, feeding and swallowing difficulties, seizures, sleeping problems, diffuse symmetric white matter changes in subcortical areas and cerebral cortex
NewbornDx™Coverage: 99%
Cantu syndrome
ABCC9
hypertrichosis, a distinctive facial appearance, heart defects, macrocephaly
NewbornDx™Coverage: 98%
KCNJ8
congenital hypertrichosis, macrosomia at birth, macrocephaly, coarsefacial appearance, cardiomegaly, skeletal abnormalities, developmental delay
NewbornDx™Coverage: 100%
CAP myopathy
TPM2
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
TPM3
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
Capillary-arteriovenous malformation
RASA1
capillary malformations (common on face or neck), maculae are homogeneous or telangiectatic, maculae vary in color from pale pink to red, purple or brown, capillary lesions
NewbornDx™Coverage: 94%
Carbamoylphosphate synthetase I deficiency
CPS1
lethargy, irritability, seizures, ataxia, abnormal movements, vomiting after feeding, developmental delay, respiratory alkalosis, poor regulation body temperature
NewbornDx™Coverage: 100%
Carbonic anhydrase VA deficiency
CA5A
acute onset of encephalopathy, lethargy, metabolic acidosis, hyperammonemia, hypoglycemia
NewbornDx™Coverage: 100%
Cardiac conduction defect
CALM3
functional second-degree AV block, extremely prolonged QT intervals
NewbornDx™Coverage: 99%
Cardiac conduction defect, dilated cardiomyopathy
TNNI3K
atrial fibrillation, multifocal or ectopic atrial tachycardia
NewbornDx™Coverage: 93%
Cardioencephalomyopathy
SCO2
cardiomyopathy, abnormal breathing pattern, nystagmus, gyral abnormalities
NewbornDx™Coverage: 100%
Cardiofaciocutaneous syndrome
BRAF
cardiac defect, facial dysmorphism, keratosis pilaris, hypotonia, failure to thrive
NewbornDx™Coverage: 97%
KRAS
CFC: Cardiac defect (pulmonic stenosis, ASD, hypertrophic cardiomyopathy), facial dysmorphism (ocular hypertelorism, down-slanting palpebral fissures, ptosis, small chin, coarse facial features), dry rough skin, keratosis pilaris, nevi, hypotonia (during infancy), failure to thrive
NewbornDx™Coverage: 97%
MAP2K1
cardiac defect (pulmonic stenosis, ASD, hypertrophic cardiomyopathy), facial dysmorphism, dry rough skin, keratosis pilaris, nevi, hypotonia, failure to thrive
NewbornDx™Coverage: 98%
Cardiomyopathy
ACTC1
hypertrophic cardiomyopathy, dilated cardiomyopathy
NewbornDx™Coverage: 100%
ACTN2
hypertrophic cardiomyopathy, atrial septal defect (ASD), left ventricular hypertrophy, biventricular dilation, atrial fibrillation, atrioventricular block
NewbornDx™Coverage: 100%
ANKRD1
cardiac ankyrin repeat protein
NewbornDx™Coverage: 95%
Carney complex
MYH8
short stature, micrognathia, mild facial asymmetry, ptosis, limited mouth opening, interphalangeal webbing, downturning toes, hammer toe, reduced elbow supination, hands clenched at birth (loosen in infancy)
NewbornDx™Coverage: 100%
PRKAR1A
skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, schwannomas
NewbornDx™Coverage: 98%
Carnitine palmitoyltransferase deficiency, type I
CPT1A
hypoketotic hypoglycemia, hepatomegaly, renal tubular acidosis, poor feeding, hypotonia, recurrent hepatic encephalopathy with illness/infection
NewbornDx™Coverage: 100%
CPT1B
muscle weakness
NewbornDx™Coverage: 100%
Carnitine palmitoyltransferase deficiency, type II
CPT2
liver failure, hypoketotic hypoglycemia, cardiomyopathy, respiratory distress, cystic dysplastic kidneys, liver failure, peripheral muscle weakness
NewbornDx™Coverage: 100%
Carnitine-acylcarnitine translocase deficiency
SLC25A20
breathing problems, seizures, arrhythmia, hypoglycemia, hyperammonemia, hepatomegaly, cardiomyopathy, rhabdomyolysis, hypotonia
NewbornDx™Coverage: 100%
Carpenter syndrome
MEGF8
multisuture craniosynostosis, polysyndactyly of the hands and feet, obesity, umbilical hernia, cryptorchidism, congenital heart disease
NewbornDx™Coverage: 100%
RAB23
multisuture craniosynostosis, polysyndactyly of the hands and feet, obesity, umbilical hernia, cryptorchidism, congenital heart disease, no brain malformations, hypertelorism, depressed nasal bridge, epicanthus, upslanted palpebral fissures, highly arched eyebrows, low-set poorly angulated ears
NewbornDx™Coverage: 95%
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
RMRP
metaphyseal dysplasia without hypotrichosis, disproportionate dwarfism, normal spine and pelvis, limb shortening (short long bones), metaphyseal irregularities, bone abnormalities of the hands (phalangeal cone-shaped epiphyses, short metacarpals, metacarpal/metaphyseal cupping), normal hair, no immundeficiency, malabsorption, Hirschsprung disease, esophageal atresia, lumbar lordosis, mild scoliosis, occasional mild odontoid hypoplasia, small pelvic inlet, limited elbow extension, metaphyseal dysplasia, fine and sparse light-colored hair, sparse eyebrows and eyelashes, macrocytic anemia, neutropenia, lymphopenia, congenital hypoplastic, severely disproportionate short stature, hypertelorism, hypodontia, j-shaped stella, rhizomelic shortening, metaphyseal flaring, small epiphyses, brachydactyly, cervical cord compression, intellectual disability
NewbornDx™Coverage: 100%
Cataracts
AGK
congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, lactic acidosis, normal intelligence
NewbornDx™Coverage: 100%
CRYAA
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
CRYBA1
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
CRYGC
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
CRYGD
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
EPHA2
opacification of the crystalline lens
NewbornDx™Coverage: 100%
NHS
congenital nuclear cataracts, dental anomalies, craniofacial dysmorphisms
NewbornDx™Coverage: 97%
Catel-Manzke syndrome
TGDS
Pierre Robin anomaly, radial deviation of the index finger
NewbornDx™Coverage: 86%
Caudal regression syndrome
VANGL1
congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs
NewbornDx™Coverage: 100%
Central core disease
RYR1
mild congenital myopathy, motor developmental delay, mild proximal weakness most pronounced in the hip girdle musculature, risk of malignant hyperthermia, neonatal hypotonia, generalized muscle weakness and amyotrophy, fetal akinesia, arthrogryposis, lung hypoplasia, hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, rhabdomyolysis due to anesthesia
NewbornDx™Coverage: 97%
Central hypoventilation syndrome
ASCL1
abnormal control of respiration, hypoventilate with normal respiratory rates and shallow breathing during sleep, cyanosis and increased carbon dioxide during sleep (first hours of life)
NewbornDx™Coverage: 100%
GDNF
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion
NewbornDx™Coverage: 100%
PHOX2B
hypoventilation with monotonous respiratory rates and shallow breathing
NewbornDx™Coverage: 99%
RET
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, identifiable brainstem lesion
NewbornDx™Coverage: 100%
Central hypoventilation syndrome (CHS)
EDN3
hypoventilation, absent perception of asphyxia, autonomic nervous system dysregulation
NewbornDx™Coverage: 100%
Centronuclear myopathy
BIN1
congenital myopathy characterized by slowly progressive muscular weakness and wasting
NewbornDx™Coverage: 99%
CCDC78
hypotonia, muscle weakness, excessive fatigue
NewbornDx™Coverage: 100%
SPEG
severe neonatal hypotonia, respiratory insufficiency, difficulty feeding
NewbornDx™Coverage: 97%
Cerebellar ataxia
ATP8A2
mental retardation, truncal ataxia, dysarthria, inability to walk, cerebral atrophy, cerebellar atrophy, atrophy of corpus callosus, quadrupedal locomotor
NewbornDx™Coverage: 98%
Cerebellar ataxia and mental retardation syndrome
CA8
ataxia, mild mental retardation, dysarthria
NewbornDx™Coverage: 99%
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome
WDR81
cerebellar hypoplasia, mental retardation, quadrupedal locomotion, absent speech, short stature, coarse facial features
NewbornDx™Coverage: 100%
Cerebellar hypoplasia and mental retardation syndrome
VLDLR
nonprogressive congenital cerebellar ataxia with mental retardation, hypotonia, exaggerated deep tendon reflexes, short stature
NewbornDx™Coverage: 99%
Cerebral creatine deficiency syndrome
SLC6A8
developmental delay, hypotonia, seizures, lack of speech, behavorial problems, microcephaly, mid-face hypoplasia, constipation, elevated plasma and urine creatine
NewbornDx™Coverage: 98%
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNAP29
progressive microcephaly, failure to thrive, roving eye movements, facial dysmorphism, palmoplantar keratosis and ichthyosis, defects of the corpus callosum and cortical dysplasia with pachygyria and polymicrogyria
NewbornDx™Coverage: 100%
Cerebral folate transport deficiency
FOLR1
severe developmental regression, seizures, motor dysfunction, disturbed myelination
NewbornDx™Coverage: 100%
Cerebral palsy
KANK1
congential hypotonia, spastic quadriplegia with accompanying transient nystagmus, brain atrophy and ventriculomegaly
NewbornDx™Coverage: 100%
Cerebral palsy, spastic quadriplegic
GAD1
hypertonicity, hyperreflexia, and extensor plantar responses, contractures
NewbornDx™Coverage: 100%
Cerebrocostomandibular syndrome
SNRPB
severe micrognathia, rib defects, mental retardation
NewbornDx™Coverage: 99%
Cerebrooculofacioskeletal syndrome
ERCC1
microcephaly with premature closure of fontanels, dysmorphic facial features, arthrogryposis with rocker-bottom feet, flexion contractures of the hands, bilateral congenital hip dislocation
NewbornDx™Coverage: 99%
ERCC5
prenatal onset arthrogryposis, microcephaly, growth failure, developmental delay, marked UV sensitivity of the skin
NewbornDx™Coverage: 98%
Cerebroretinal microangiopathy with calcifications and cysts
CTC1
intracranial calcifications, leukodystrophy, brain cysts, spasticity, dystonia, seizures, cognitive decline, retinal telangiectasia and exudates
NewbornDx™Coverage: 99%
Cerebrotendinous xanthomatosis
CYP27A1
diarrhea, childhood-onset cataract, elevated plasma, CSF, tissue cholestanol concentration
NewbornDx™Coverage: 100%
Chanarin-Dorfman syndrome
ABHD5
nonbullous congenital ichthyosiform erythroderma
NewbornDx™Coverage: 97%
Char syndrome
TFAP2B
patent ductus arteriosus, facial dysmorphism
NewbornDx™Coverage: 100%
Charcot-Marie-Tooth (CMT) disease
DNM2
intermediate, symmetric, slowly progressive distal motor neuropathy of the arms and legs
NewbornDx™Coverage: 100%
Charcot-Marie-Tooth disease
EGR2
severe demyelinating neuropathy
NewbornDx™Coverage: 100%
FGD4
progressive muscle weakness in the feet and/or hands, high-arched feet, atrophic distal muscles, depressed or absent tendon reflexes, distal sensory loss
NewbornDx™Coverage: 98%
GARS
presence of sensory deficits including reduction of pinprick, temperature, touch, and vibration perception
NewbornDx™Coverage: 96%
GDAP1
progressive weakness of the distal muscles in the feet and/or hands, high-arched feet, weak ankle dorsiflexion, distal sensory loss
NewbornDx™Coverage: 99%
IGHMBP2
progressive distal muscle weakness and atrophy affecting the lower and upper limbs, decreased reflexes
NewbornDx™Coverage: 99%
MPZ
demyelinating neuropathy, elevated CSF protein, muscle weakness
NewbornDx™Coverage: 94%
NAGLU
failure to thrive, developmental delay, hepatomegaly, diarrhea, coarse hair, protuberant abdomen, normal facies
NewbornDx™Coverage: 100%
PMP22
severe demyelinating neuropathy of infancy and childhood associated with very slow NCVs, elevated CSF protein, marked clinical weakness, hypertrophic nerves with onion bulb formation
NewbornDx™Coverage: 100%
PRPS1
hyperuricemia, neurodevelopmental abnormalities, sensorineural deafness
NewbornDx™Coverage: 99%
SURF1
bilaterally symmetric necrotic lesions in subcortical brain regions
NewbornDx™Coverage: 90%
Charcot-Marie-Tooth disease/Dejerine-Sottas Syndrome
PRX
demyelinating peripheral neuropathy, distal muscle weakness and atrophy associated with impaired distal sensation, upper and lower limbs affected, nystagmus, late-onset cerebellar ataxia
NewbornDx™Coverage: 100%
CHARGE syndrome
CHD7
colobma (iris, retina-choroid, optic disc), choanal atresis or stenosis, cranial nerve dysfunction, abnormal outer ears, developmental delay, cryptorchidism (males) and hypogonadotrophic hypogonadism, cardiovascular malformations, growth deficiency, orofacial clefts, tracheoesophageal fistula
NewbornDx™Coverage: 97%
SEMA3E
colobma (iris, retina-choroid, optic disc), choanal atresis or stenosis, cranial nerve dysfunction, abnormal outer ears, developmental delay, cryptorchidism (males), hypogonadotrophic hypogonadism, cardiovascular malformations, growth deficiency, orofacial clefts, tracheoesophageal fistula
NewbornDx™Coverage: 94%
Chediak-Higashi syndrome
LYST
reduced pigment in skin, hair, and iris, nystagmus, bacterial infections of the skin and respiratory tract, absent or reduced number and irregular morphology of platelet-dense bodies
NewbornDx™Coverage: 96%
CHILD syndrome
NSDHL
congenital hemidysplasia with ichythyosiform erythrodema and limb defects (lethal in hemizygous males)
NewbornDx™Coverage: 100%
CHIME syndrome
PIGL
colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, ear anomalies
NewbornDx™Coverage: 99%
Chondrocalcinosis
ANKH
deposition of crystals of calcium pyrophosphate dihydrate in articular hyaline and fibro-cartilage
NewbornDx™Coverage: 100%
Chondrodysplasia punctata
ARSE
failure to thrive, apparent mental retardation, atypical facies, punctate calcifications in feet and other sites
NewbornDx™Coverage: 100%
EBP
stippling of long bones, spinal bones and traceha, shortening of arm and thigh bones, kyphoscoliosis, dry, scaly skin, abnormal hair growth
NewbornDx™Coverage: 100%
PTH1R
short limbs, polyhydramnios, hydrops fetalis, facial anomalies (mid-facial hypoplasia), increased bone density, advanced skeletal maturation, death during infancy
NewbornDx™Coverage: 98%
Chondrodysplasia with joint dislocations
IMPAD1
short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, micrognathia, cleft palate, facial dysmorphism
NewbornDx™Coverage: 100%
Choreoasthetosis, hypothyroidism, and neonatal respiratory distress
NKX2-1
neonatal respiratory distress, recurrent respiratory infections, global developmental delay, hypotonia, choreoathetosis, ataxia, dystonia, dysarthia, general hypothyroidism, increased TSH
NewbornDx™Coverage: 100%
Christianson syndrome
SLC9A6
microcephaly, severe global developmental delay, hypotonia, developmental regression, tonic-clonic seizures, hyperkinetic movements, cerebellar atrophy, deep sunken eyes
NewbornDx™Coverage: 94%
Chudley-McCullough syndrome
GPSM2
sensorineural hearing loss, brain malformation including short and thin corpus callosum, heterotopia, frontal polymicrogyria, cerebellar dysplasia, arachnoid, normal development
NewbornDx™Coverage: 98%
Chylomicron retention disease
SAR1B
severe fat malabsorption associated with failure to thrive in infancy
NewbornDx™Coverage: 92%
Ciliary dyskinesia
C21orf59
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 92%
CCDC103
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
CCDC114
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
CCDC151
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
CCDC39
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 95%
CCDC40
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 99%
CCDC65
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
CCNO
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAAF1
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAAF2
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAAF3
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAAF5
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 80%
DNAH11
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAH5
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 99%
DNAI1
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAI2
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAL1
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 81%
DRC1
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 92%
DYX1C1
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 84%
HYDIN
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
LRRC6
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 91%
NME8
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 80%
RSPH1
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
RSPH3
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 99%
RSPH4A
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 99%
RSPH9
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
SPAG1
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 81%
ZMYND10
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
Ciliopathy
CC2D2A
cerebellar and brain stem malformation, hypotonia, developmental delay, cystic kidney disease, retinal dystrophy, congenital hepatic fibrosis
NewbornDx™Coverage: 94%
IFT172
short stature, retinal degeneration, small thorax, respiratory distress (some patients), liver failure, progressive renal failure, short long bones, short ribs
NewbornDx™Coverage: 100%
SDCCAG8
end-stage renal disease, obesity, short stature, mild cognitive impairment, retinal degeneration
NewbornDx™Coverage: 89%
Citrin deficiency
SLC25A13
poor growth, intrahepatic cholestasis, increased serum citrulline
NewbornDx™Coverage: 100%
Citrullinemia, type I
ASS1
lethargy, poor feeding, vomiting, hepatomegaly, seizures, developmental delay, irritability, hyperammonemia
NewbornDx™Coverage: 100%
Citrullinemia, type II
SLC25A13
poor growth, intrahepatic cholestasis, increased serum citrulline
NewbornDx™Coverage: 100%
CK syndrome
NSDHL
congenital hemidysplasia with ichythyosiform erythrodema and limb defects (lethal in hemizygous males)
NewbornDx™Coverage: 100%
Cleidocranial dysplasia
RUNX2
open skull sutures with bulging calvaria, hypoplasia or aplasia of clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, vertebral malformation
NewbornDx™Coverage: 100%
COACH syndrome
CC2D2A
cerebellar and brain stem malformation, hypotonia, developmental delay, cystic kidney disease, retinal dystrophy, congenital hepatic fibrosis
NewbornDx™Coverage: 94%
TMEM67
mental retardation, cerebellar hypoplasia, hypotonia, developmental delay, hepatic fibrosis
NewbornDx™Coverage: 90%
Cockayne syndrome
ERCC6
failure to thrive, little or no development, congenital cataracts, joint contractures, distinctive facial features, kyphosis, sensorienural hearing loss, no language skills
NewbornDx™Coverage: 100%
ERCC8
failure to thrive, little or no development, congenital cataracts, joint contractures, distinctive facial features, kyphosis, sensorienural hearing loss, no language skills
NewbornDx™Coverage: 93%
Coenzyme Q10 deficiency
ADCK3
cerebellar ataxia, exercise intolerance, seizures, mild mental impairment
NewbornDx™Coverage: 99%
COQ2
muscle weakness, fatigue, liver failure, nephrotic syndrome, sensoineural hearing loss, vision loss, seziures, global developmental delay, decreased CoQ10 in muscle
NewbornDx™Coverage: 100%
COQ6
progressive nephrotic syndrome, sensorineural hearing loss
NewbornDx™Coverage: 100%
COQ9
poor feeding, hypothermia, seizures, hypotonia, hypertonia, lactic acidosis, cerebral and cerebellar atrophy, decreased CoQ10 in muscle
NewbornDx™Coverage: 99%
PDSS1
early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, cardiac valvulopathy
NewbornDx™Coverage: 87%
PDSS2
neonatal pneumonia, progressive hypotonia, seizures, vomiting, nephrotic syndrome, elevated serum lactate, Leigh syndrome, CoQ10 did not improve clincial course
NewbornDx™Coverage: 92%
Coffin-Lowry syndrome
RPS6KA3
prominent forehead, widely spaced and downward-slanting eyes, short nose with a wide tip, wide mouth with full lips, severe to profound intellectual disability and developmental delay (males), normal intelligence or mild to profound intellectual disability (females), microcephaly, childhood onset kyphoscoliosis, short stature, stimulus-induced drop episodes, cardiovascular disease
NewbornDx™Coverage: 88%
Coffin-Siris syndrome
ARID1A
hypoplasia of fifth digits/nails, dysmorphic facial features, hirsutism, feeding problems, hypotonia, brain malformations (Dandy-Walker variant, gyral simplification, agenesis of corpus callosum)
NewbornDx™Coverage: 94%
ARID1B
hypoplasia of fifth digits/nails, dysmorphic facial features, hirsutism, feeding problems, hypotonia, brain malformations (Dandy-Walker variant, gyral simplification, agenesis of corpus callosum)
NewbornDx™Coverage: 88%
SMARCA4
hypoplasia of fifth digits/nails, dysmorphic facial features, hirsutism, feeding problems, hypotonia, brain malformations (Dandy-Walker variant, gyral simplification, agenesis of corpus callosum)
NewbornDx™Coverage: 99%
SMARCB1
hypoplasia of fifth digits/nails, dysmorphic facial features, hirsutism, feeding problems, hypotonia, brain malformations
NewbornDx™Coverage: 100%
SMARCE1
hypoplasia of fifth digits/nails, dysmorphic facial features, hirsutism, feeding problems, hypotonia, brain malformations
NewbornDx™Coverage: 98%
Cognitive impairment with or without cerebellar ataxia
SCN8A
developmental delay, intellectual disability, hypotonia, difficulties with coordination and balance, EEG findings include bifrontal spikes and brief bursts of generalized spike-wave activity, multifocal spikes, and frontally predominant generalized spikes
NewbornDx™Coverage: 100%
Cohen syndrome
VPS13B
facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, intermittent congenital neutropenia
NewbornDx™Coverage: 99%
Colobomatous macrophthalmia with microcornea
SIX2
colobomas, high myopia
NewbornDx™Coverage: 100%
Combined D-2- and L-2-hydroxyglutaric aciduria
SLC25A1
encephalopathy, severe hypotonia, seizures, poor feeding, brain anomalies (enlarged ventricles, delayed myelination, and germinal layer cysts), lack of development
NewbornDx™Coverage: 98%
Combined factor V and VIII deficiency
LMAN1
epistaxis, menorrhagia, excessive bleeding during or after trauma
NewbornDx™Coverage: 98%
MCFD2
epistaxis, menorrhagia, excessive bleeding during or after trauma, plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%
NewbornDx™Coverage: 99%
Combined malonic and methylmalonic aciduria
ACSF3
vomiting, diarrhea, failure to thrive, hypoglycemia, seizures, microcephaly
NewbornDx™Coverage: 100%
Combined mitochondrial complex deficiency
GFER
congenital cataract, muscular hypotonia, sensorineural hearing loss, developmental delay
NewbornDx™Coverage: 100%
Combined oxidative phosphorylation deficiency
AARS2
infantile hypertrophic cardiomyopathy, failure to thrive, generalized muscle weakness, lactic acidosis
NewbornDx™Coverage: 100%
AIFM1
basal ganglia abnormalities, hypotonia, delayed development, areflexia, muscle weakness
NewbornDx™Coverage: 100%
ATP5A1
intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, heart failure
NewbornDx™Coverage: 100%
C12orf65
failure to thrive, regression, Leigh syndrome, decreased vision, hyptonia, areflexia, spastic paraplegia
NewbornDx™Coverage: 71%
EARS2
seizures, hypotonia, seizures, dystonia, visual deficits, absence of speech, no head control, failure to thrive, hepatomegaly, white matter abnormalities
NewbornDx™Coverage: 100%
ELAC2
poor growth, hypotonia, lactic acidosis, delayed psychomotor development after normal early development in the first few months of life
NewbornDx™Coverage: 100%
FARS2
global developmental delay, lactic acidosis, uncontrolled seizures, poor growth, hypotonia, aneamia, hypotonia, anemia, thrombocytopenia
NewbornDx™Coverage: 100%
GFM1
growth retardation, microcephaly, hypertonicity, axial hypotonia, cardiomyopathy, liver dysfunction, elevated serum lactate and pyruvate, refractory seizures
NewbornDx™Coverage: 99%
GTPBP3
hypertrophic cardiomyopathy, hypotonia, lactic acidosis, white matter changes
NewbornDx™Coverage: 100%
LYRM4
respiratory distress, hypotonia, severe lactic acidosi, hepatomegaly, weakness, abnormal EEG
NewbornDx™Coverage: 73%
MARS2
sensorineural hearing loss, generalized hypotonia, significant pectus carinatum, white matter changes, gastrointestinal difficulties
NewbornDx™Coverage: 100%
MRPL3
normal growth and development in the first few months of life, failure to thrive, poor feeding, hypertrophic cardiomyopathy, increased plasma lactate and alanine, mitochondrial respiratory complexes I, III, IV, and V decreased
NewbornDx™Coverage: 90%
MRPL44
hypertrophic cardiomyopathy, liver steatosis, pigmentary retinopathy, muscle and liver biopsy significant for mild microvesicular fatty degeneration
NewbornDx™Coverage: 100%
MRPS16
small for gestational age, dysmorphic facial features, limb edema, brachydactyly, redundant skin over the neck
NewbornDx™Coverage: 100%
MRPS22
microcephaly, dilated cardiomyopathy, dysmorphic features, hypotonia, chronic metabolic acidosis, seizures, poor growth, lack of development, structural brain malformations
NewbornDx™Coverage: 96%
MTFMT
delayed psychomotor development, ataxia, hypotonia, decreased visual acuity, Wolff-Parkinson-White syndrome
NewbornDx™Coverage: 94%
MTO1
hypertrophic cardiomyopathy, lactic acidosis
NewbornDx™Coverage: 91%
NARS2
myopathy, facial weakness, generalized seziures, inconsolable crying, opisthotonus, white matter abnormalities, renal tubulopathy
NewbornDx™Coverage: 97%
PNPT1
choreoathetosis, dyskinesia, nonprogressive encephalopathy, global hypotonia, muscle atrophy
NewbornDx™Coverage: 82%
RMND1
neonatal hypotonia, lactic acidosis, respiratory insufficiency, foot deformities, seizures, profound floppiness
NewbornDx™Coverage: 91%
SFXN4
growth retardation, visual impairment, macrocytic anemia
NewbornDx™Coverage: 93%
SURF1
bilaterally symmetric necrotic lesions in subcortical brain regions
NewbornDx™Coverage: 90%
TARS2
axial hypotonia, severe psychomotor delay
NewbornDx™Coverage: 100%
TSFM
hypotonia, sucking weakness, lactic acidosis, cardiomyopathy
NewbornDx™Coverage: 93%
TUFM
lactic acidosis, progressive encephalopathy, metabolic acidosis, microcephaly, generalized axial hypotonia with limb spasticity
NewbornDx™Coverage: 100%
VARS2
mitochondrial encephalomyopathy
NewbornDx™Coverage: 97%
Combined pituitary hormone deficiency
HESX1
optic nerve hypoplasia, CNS anomalies (absent septum pellucidum, absent corpus callosum, midline forebrain defects, intellectual disability), neonatal hypoglycemia (some cases), hypoplasia of anterior pituitary, ectopic or absent posterior pituitary
NewbornDx™Coverage: 100%
LHX3
anterior pituitary enlargement or hypoplasia, low or absent GH, TSH, FSH, LH, PL, ACTH
NewbornDx™Coverage: 100%
LHX4
short stature, delayed bone age, hypoglycemia, abnormal petrous bone, hypothyroidism (if untreated)
NewbornDx™Coverage: 95%
POU1F1
severe growth retardation (infancy), jaundice, macroglossia, skull anomalies, facial dysmorphism (prominent forehead, midface hypoplasia, depressed nasal bridge, hypotonia)
NewbornDx™Coverage: 94%
PROP1
neonatal hypoglycemia, hypoglycemic seizures, low or absent growth hormone, low or absent TSH
NewbornDx™Coverage: 100%
Common variable immunodeficiency
CD19
increased susceptibility to infection, hypogammaglobulinemia
NewbornDx™Coverage: 100%
CD81
recurrent infections, autoimmune glomerulonephritis, autoimmune thrombocytopenia, hypogammaglobulinemia, normal number of B cells, normal number of T cells, low serum IgA, IgG, low or normal serum IgM
NewbornDx™Coverage: 100%
iCOS
antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, inability to mount an antibody response to antigen, decreased levels of serum IgG and IgA; IgM was low-normal or low
NewbornDx™Coverage: 93%
IL21
severe inflammatory bowel disease, severe diarrhea, severe failure to thrive, poor growth, malnutrition, recurrent and severe respiratory infections
NewbornDx™Coverage: 88%
MS4A1
recurrent respiratory infections, normal number of B cells, low serum IgG and IgA, low-normal serum IgM, normal number of T cells
NewbornDx™Coverage: 94%
NFKB1
recurrent infections, hypogammaglobulinemia
NewbornDx™Coverage: 99%
TNFRSF13C
recurrent infections, decreased number of mature B cells, normal T cell count, decreased serum IgG, IgM, normal IgA
NewbornDx™Coverage: 85%
Complex cortical dysplasia
KIF2A
microcephaly, early-onset epilepsy, malformations of cortical development, including agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum, severe developmental delay
NewbornDx™Coverage: 83%
KIF5C
IUGR, arthrogryposis, congenital microcephaly, clonic seizures, frontal and perisylvian polymicrogyria and a thin corpus callosum, severe intellectual disability
NewbornDx™Coverage: 99%
TUBB2A
infantile spasms, hypsarrhythmia, global developmental delay, generalized hypotonia, no speech, structural brain abnormalities
NewbornDx™Coverage: 100%
TUBB3
mild to severe mental retardation, strabismus, axial hypotonia, spasticity, brain malformations
NewbornDx™Coverage: 100%
TUBG1
micocephaly, spastic tetraplegia, brain malformations including posterior agyria, frontal pachygyria, thick cortex
NewbornDx™Coverage: 100%
Cone-rod synaptic disorder
CABP4
nystagmus, photophobia, normal or near-normal fundus appearance, no night blindness
NewbornDx™Coverage: 100%
Congenital adrenal hyperplasia
CYP11B1
ambiguous genitalia, hypertension, cortisol deficiency
NewbornDx™Coverage: 100%
Congenital afibrinogenemia
FGA
prolonged bleeding from umbilical cord stump, nosebleeds, bleeding of gums, prolonged bleeding following minor trauma, spontaneous bleeding
NewbornDx™Coverage: 100%
FGB
uncontrolled bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, risk of intracranial hemorrhage
NewbornDx™Coverage: 100%
FGG
uncontrolled bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system
NewbornDx™Coverage: 96%
Congenital anomalies of kidney and urinary tract
DSTYK
structural anomalies range from complete renal agenesis to renal hypodysplasia
NewbornDx™Coverage: 100%
Congenital bile acid synthesis defect
ABCD3
hepatomegaly, splenomegaly, liver failure, fibrosis, jaundice, iron-deficiency anemia, abnormal liver enzyme
NewbornDx™Coverage: 89%
AKR1D1
failure to thrive, jaundice, steatorrhea, malabsorption of fat and fat-soluble vitamins, hyperbilirubinemia, splenomegaly
NewbornDx™Coverage: 99%
AMACR
failure to thrive, intrahepatic cholestasis, jaundice, hepatmegaly, progressive liver failure, abnormal liver function testing, hyperbilirubinemia
NewbornDx™Coverage: 100%
CYP7B1
jaundice, hepatosplenomegaly and increased bleeding, elevated urinary bile acid excretion
NewbornDx™Coverage: 97%
HSD3B7
progressive liver disease, intrahepatic cholestasis, jaundice, hepatomegaly, diarrhea, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol
NewbornDx™Coverage: 100%
SLC10A2
poor growth, failure to thrive, chronic watery diarrhea, steatorrhea, increased fecal bile acid
NewbornDx™Coverage: 100%
Congenital cardiac defects
FOXH1
structural cardiac defects including Tetralogy of Fallot, ventricular septal defect, isolated transposition of the great arteries
NewbornDx™Coverage: 100%
GATA4
congential heart defect including atrial septal defect (ASD), Tetralogy of Fallot, ventricular septal defect (VSD)
NewbornDx™Coverage: 87%
GATA6
non-syndromic congenital heart defects, atrial septal defect (ASD), Tetralogy of Fallot
NewbornDx™Coverage: 76%
HAND2
pulmonary stenosis, ventricular septal defect (VSD), congenital heart disease
NewbornDx™Coverage: 96%
NKX2-5
hypoplastic left heart syndrome, VSD, Tetralogy of Fallot, conotruncal heart malformations
NewbornDx™Coverage: 100%
NR2F2
nonsyndromic congential heart defects
NewbornDx™Coverage: 96%
TAB2
nonsyndromic congential heart defects
NewbornDx™Coverage: 99%
ZIC3
structural cardiac defects
NewbornDx™Coverage: 100%
Congenital cataracts, facial dysmorphism, and neuropathy
CTDP1
bilateral cataracts, microcornea, and micropupils, hypo/demyelinating peripheral neuropathy, dysmorphic facial features, short stature, intellectual disabilities
NewbornDx™Coverage: 85%
Congenital cataracts, hearing loss, and neurodegeneration
CCS
congenital cataracts, bilateral hearing loss, developmental delay, very low serum copper and ceruloplasmin
NewbornDx™Coverage: 96%
SLC33A1
severe hypotonia, bilateral congenital cataracts noted during neonatal period, inability to fix gaze, rotary nystagmus, severe developmental delay, low serum copper and ceruloplasmin,neutropenia, cerebral and cerebellar atrophy and hypomyelination
NewbornDx™Coverage: 99%
Congenital clubfoot with or without deficiency of long bones, mirror-image polydactyly
PITX1
Liebenberg syndrome, dysplastic elbow joints, fusion of wrist bones with consequent radial deviation, congenital clubfoot, fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities, preaxial polydactyly, long bone abnormalities
NewbornDx™Coverage: 99%
Congenital contractural arachnodactyly
FBN2
marfanoid habitus (long, thin limbs, narrow head and body), flexion contractures of multiple joints including elbows, knees, hips, and fingers, kyphoscoliosis, muscular hypoplasia, abnormal pinnae
NewbornDx™Coverage: 100%
Congenital contractures, hypotonia, and developmental delay
NALCN
severe contractures of limbs, dysmorphism, hypotonia, developmental delay
NewbornDx™Coverage: 98%
Congenital deafness with labyrinthine aplasia microtia and microdontia
FGF3
congenital profound sensorineural hearing loss, labyrinthine aplasia, microtia, michel aplasia, microdontia
NewbornDx™Coverage: 95%
Congenital diaphragmatic hernia
SLIT3
congenital diaphragmatic hernia
NewbornDx™Coverage: 99%
Congenital diarrhea
DGAT1
vomiting, colicky pain, congenital nonbloody watery diarrhea
NewbornDx™Coverage: 91%
NEUROG3
vomiting, dehydration, severe hyperchloremic metabolic acidosis, dehydration, failure to thrive
NewbornDx™Coverage: 100%
SLC26A3
severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis
NewbornDx™Coverage: 100%
Congenital disorder of glycosylation
ALG1
severe developmental delay, hypotonia, and early-onset seizures, progressive microcephaly, coagulation defects, nephrotic syndrome, liver dysfunction, cardiomyopathy, immunodeficiency
NewbornDx™Coverage: 99%
ALG11
microcephaly, high forehead, low posterior headline, hypotonia, failure to thrive, seizures, unusual fat patterns, persistent vomiting, gastric bleeding, developmental delay
NewbornDx™Coverage: 97%
ALG12
dysmorphic features, generalized hypotonia, feeding difficulties, developmental delay, progressive microcephaly, upper respiratory tract infections, impaired immunity
NewbornDx™Coverage: 100%
ALG13
microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections, increased bleeding tendency
NewbornDx™Coverage: 89%
ALG2
bilateral iris colobomas, unilateral cataract, infantile spasms, severe developmental delay
NewbornDx™Coverage: 100%
ALG3
severe developmental delay, hypsarrhythmia, postnatal microcephaly, optic atrophy, atrophy of the brain and corpus callosum, failure to thrive, hypotonia
NewbornDx™Coverage: 100%
ALG6
hypotonia, poor head control, developmental delay, ataxia, strabismus, seizures
NewbornDx™Coverage: 90%
ALG8
moderate hepatomegaly, severe diarrhea, hypoalbuminemia, normal development, hypotonia
NewbornDx™Coverage: 84%
ALG9
microcephaly, hypotonia, developmental delay, seizures, hepatomegaly
NewbornDx™Coverage: 98%
B4GALT1
Dandy-Walker malformation, progressive hydrocephalus, coagulation abnormalities, elevated serum creatine kinase concentration
NewbornDx™Coverage: 100%
COG1
feeding difficulties, failure to thrive, hypotonia, mild developmental delay, rhizomelic short stature, progressive microcephaly, cardiac abnormalities, hepatosplenomegaly
NewbornDx™Coverage: 100%
COG4
complex seizures disorder treated with phenobarbital, hypotonia, microcephaly, ataxia, abnormal movements, global developmental delay, recurrent respiratory infections
NewbornDx™Coverage: 100%
COG5
mild delay in motor and language development
NewbornDx™Coverage: 95%
COG6
intractable seizures, vitamin K deficiency, intracranial bleeding
NewbornDx™Coverage: 93%
COG7
micro- and retrognathia, short neck, wrinkled and loose skin, adducted thumbs, hypotonia, skeletal abnormalities, hepatosplenomegaly, jaundice, seizures, microcephaly, dysmorphic facial features
NewbornDx™Coverage: 100%
COG8
severe developmental delay, hypotonia, seizures, esotropia, failure to thrive, progressive microcephaly
NewbornDx™Coverage: 100%
DDOST
failure to thrive, developmental delay, hypotonia, strabismus, hepatic dysfunction
NewbornDx™Coverage: 100%
DOLK
hypotonia and ichthyosis, seizures, microcephaly
NewbornDx™Coverage: 100%
DPAGT1
hypotonia, intractable seizures, developmental delay, microcephaly, apnea and respiratory deficiency, cataracts, joint contractures
NewbornDx™Coverage: 100%
DPM1
severe developmental delay, microcephaly, seizures, ocular hypertelorism, small hands with dysplastic nails, knee contractures
NewbornDx™Coverage: 86%
DPM2
failure to thrive, osteopenia, hypotonia, liver dysfunction, increased creatine kinase
NewbornDx™Coverage: 100%
DPM3
intellectual disability, mild muscle weakness, dilated cardiomyopathy, stroke-like episodes
NewbornDx™Coverage: 100%
MGAT2
facial dysmorphism, stereotypic hand movements, seizures, varying degrees of developmental delay
NewbornDx™Coverage: 100%
MOGS
hypotonia, dysmorphic facial features, hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, generalized edema
NewbornDx™Coverage: 100%
MPDU1
severe developmental delay, generalized scaly, erythematous skin, attacks of hypertonia
NewbornDx™Coverage: 100%
MPI
hyperinsulinemic hypoglycemia, cyclic vomiting, chronic diarrhea, liver disease, coagulopathy, failure to thrive, hypotonia
NewbornDx™Coverage: 100%
NGLY1
global developmental delay, hypotonia, abnormal involuntary movements, alacrima or poor tear production, intractable multifocal epilepsy, abnormal liver function, regression of motor skills, microcephaly, constipation, hyporeflexia
NewbornDx™Coverage: 100%
NHEJ1
microcephaly, growth retardation, recurrent infactions, dysmorphic facial features, hypogammaglobulinemia
NewbornDx™Coverage: 94%
PGM1
recurrent rhabdomyolysis, fatigue, chronic hepatitis
NewbornDx™Coverage: 100%
PGM3
immunodeficiency, recurrent respiratory and skin infections, developmental delay, ataxia (some cases)
NewbornDx™Coverage: 95%
PMM2
hypotonia, inverted nipples, failure to thrive, enlarged cisterna magna and superior cerebellar cistern, hyporeflexia, unusual distribution of subcutaneous fat, dysmorphic features, liver enzymes
NewbornDx™Coverage: 97%
RFT1
severe developmental delay, hypotonia, visual disturbances, seizures, feeding difficulties, sensorineural hearing loss, inverted nipples, microcephaly
NewbornDx™Coverage: 91%
RPN2
involved in N-glycan biosynthesis
NewbornDx™Coverage: 99%
SLC35A1
macrothrombocytopenia, neutropenia, immunodeficiency
NewbornDx™Coverage: 98%
SLC35A2
early-onset encephalopathy
NewbornDx™Coverage: 99%
SLC35C1
severe growth and developmental delay, microcephaly, hypotonia, distinctive cranofacial features, recurrent bacterial infections
NewbornDx™Coverage: 100%
SRD5A3
congenital eye malformations, nystagmus, hypotonia, developmental delay/intellectual disability, cerebellar ataxia
NewbornDx™Coverage: 100%
SSR4
microcephaly, cognitive impairment, seizures
NewbornDx™Coverage: 100%
STT3A
hypotonia, developmental delay, feeding issues, failure to thrive
NewbornDx™Coverage: 100%
STT3B
hypotonia, developmental delay, feeding issues, failure to thrive
NewbornDx™Coverage: 98%
TMEM165
skeletal dysplasia, abnormal white matter, pituitary hypoplasia
NewbornDx™Coverage: 96%
Congenital dyserythropoietic anemia
C15orf41
macrocytic anemia, hepatomegaly, aundice, intrauterine growth retardation
NewbornDx™Coverage: 86%
CDAN1
moderate to severe macrocytic anemia, hepatomegaly, early jaundice, intrauterine growth retardation
NewbornDx™Coverage: 99%
SEC23B
anemia, ineffective erythropoiesis, hemolysis, erythroblast morphologic abnormalities, jaundice, splenomegaly, increased serum unconjugated bilirubin
NewbornDx™Coverage: 97%
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper IgE
DSG1
recurrent infections, congenital generalized erythroderma, erosions, scaling, hyperkeratotic yellowish papules and plaques linearly on palms and fingers, hypotrichosis, severe hypernatremia
NewbornDx™Coverage: 96%
Congenital erythropoietic porphyria
UROS
pink to dark-red discoloration of the urine, blistering of skin, photosensitivity, hemolytic anemia, photomutilation, non-immune hydrops fetalis
NewbornDx™Coverage: 100%
Congenital fibrosis of extraocular muscles
KIF21A
bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position 20 to 30 degrees below the horizontal midline
NewbornDx™Coverage: 97%
TUBB3
mild to severe mental retardation, strabismus, axial hypotonia, spasticity, brain malformations
NewbornDx™Coverage: 100%
Congenital generalized lipodystrophy
BSCL2
decreased adipose tissue, insulin resistance, hypertriglyceridemia, hepatic steatosis, diabetes
NewbornDx™Coverage: 100%
Congenital glaucoma
CYP1B1
increased intraocular pressure, increased corneal diameter, enlarged globe, optic nerve head cupping
NewbornDx™Coverage: 100%
Congenital glutamine deficiency
GLUL
generalized hypotonia, lower limb hyperreflexia, seizures, severe developmental delay, apnea, recurrent respiratory infections, episodes of bradycardia, lack of development
NewbornDx™Coverage: 100%
Congenital heart defects, hamartomas, and polysyndactyly
WDPCP
congenital heart defects, hamartomas of the tongue, polydactyly
NewbornDx™Coverage: 91%
Congenital hyperinsulinism
UCP2
lethargy, irritability, difficulty feeding, hypoglycemia
NewbornDx™Coverage: 100%
Congenital hypothyroidism
NKX2-5
hypoplastic left heart syndrome, VSD, Tetralogy of Fallot, conotruncal heart malformations
NewbornDx™Coverage: 100%
PAX8
hypotonia, lethargy, goiter, abnormal thyroid gland, hoarse cry, abdominal distention, umbilical hernia, hyperbilirubinemia, poor feeding, delayed growth, dry and puffy skin, bradycardia, macroglossia, noisy breathing, large posterior fontanel
NewbornDx™Coverage: 100%
TSHB
macroglossia, depressed nasal bridge, umbilical hernia, omphalocele, large anterior fontanelle, open posterior fontanelle, hypotonia, hoarse cry, nongoitrous hypothyroidism, low to normal TSH
NewbornDx™Coverage: 100%
TSHR
no goiter, normal size thyroid gland, euthyroidism, increased TSH, hypothyroidism
NewbornDx™Coverage: 100%
Congenital ichthyosis
ABCA12
thick, taut body armor-like covering that severely restricts movement and results in deformities of the face, head, and extremities
NewbornDx™Coverage: 98%
ALOX12B
mild-to-moderate nonbullous congenital ichthyosiform erythroderma (NCIE), erythroderma (red skin) with fine, white scale and palmoplantar hyperkeratosis
NewbornDx™Coverage: 96%
ALOXE3
mild-to-moderate nonbullous congenital ichthyosiform erythroderma (NCIE), erythroderma (red skin) with fine, white scale and palmoplantar hyperkeratosis
NewbornDx™Coverage: 100%
CERS3
abnormal skin scaling, palmoplantar hyperlinearity, mild alopecia
NewbornDx™Coverage: 93%
CYP4F22
lamellar ichthyosis, fine and white skin scales (more prominent in the knees, ankles, and ears)
NewbornDx™Coverage: 100%
FLG
mild ichthyosis/xerosis, keratosis pilaris, hyperlinear palms and soles
NewbornDx™Coverage: 98%
KRT1
erythema, widespread formation of epidermal blisters developing at birth
NewbornDx™Coverage: 93%
KRT10
erythema and widespread formation of epidermal blisters developing at birth
NewbornDx™Coverage: 90%
KRT2
generalized reddening of the skin, blistering at birth
NewbornDx™Coverage: 100%
LIPN
thick, hard, armor-like plates of cornified skin that severely restrict movement, collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks, classic, severe lamellar ichthyosis (LI) with dark brown, plate-like scale with no erythroderma, CIE with finer whiter scale and underlying generalized redness of the skin
NewbornDx™Coverage: 96%
NIPAL4
lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), collodion membrane at birth and have palmoplantar keratoderma, digital contractures
NewbornDx™Coverage: 100%
PNPLA1
keratinization characterized primarily by abnormal skin scaling over the whole body, collodion membrane at birth, fine greyish-white scales, palmoplantar keratoderma
NewbornDx™Coverage: 100%
SLC27A4
presents with complications at mid-trimester of pregnancy leading to prematurity, a thick caseous and desquamating skin, respiratory complications, persistent eosinophilia, flat follicular hyperkeratosis with atopy
NewbornDx™Coverage: 100%
ST14
patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, hypohidrosis
NewbornDx™Coverage: 99%
STS
ichthyosis at birth or soon after (symmetrical, affecting anterior and posterior surfaces of the upper and lower extremities, scalp, and trunk), first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition
NewbornDx™Coverage: 100%
TGM1
collodion-like membrane at birth, development of large thick scales throughout body
NewbornDx™Coverage: 99%
Congenital isolated asplenia
RPSA
severe bacterial infections in early childhood
NewbornDx™Coverage: 100%
Congenital left heart obstructive defects
MCTP2
congenital heart defects
NewbornDx™Coverage: 98%
Congenital lipoid adrenal hyperplasia
STAR
adrenogenital syndrome, hypospadias, phenotypic female, salt-wasting, lipoid adrenal hyperplasia
NewbornDx™Coverage: 100%
Congenital mirror movements
RAD51
involuntary movements of a side of the body that mirror intentional movements on the opposite side, gradually disappear within the first decade of life
NewbornDx™Coverage: 88%
Congenital muscular dystrophy
CHKB
early-onset muscle wasting, severe intellectual disability
NewbornDx™Coverage: 100%
ITGA7
neonatal hypotonia, muscle weakness, muscle atrophy, scoliosis, dyspnea due to respiratory muscle weakness, motor delay, cognitive delay (1 case), elevated serum CK
NewbornDx™Coverage: 100%
LAMA2
profound hypotonia, poor spontaneous movements, weak cry, respiratory failure, failure to thrive, temporomandibular joint contractures, macroglossia, inability to walk
NewbornDx™Coverage: 99%
LMNA
short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis
NewbornDx™Coverage: 98%
POMT1
microcephaly, heart defect, hypotonia and muscle weakness at birth, poor and decreased motor abilities, delayed or arrest motor milestone, joint or spinal deformities
NewbornDx™Coverage: 95%
POMT2
microcephaly, heart defect, hypotonia and muscle weakness at birth, poor and decreased motor abilities, delayed or arrest motor milestone, joint or spinal deformities
NewbornDx™Coverage: 99%
Congenital myasthenic syndrome
AGRN
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 98%
ALG14
limb-girdle pattern of weakness with predominantly proximal weakness
NewbornDx™Coverage: 100%
CHAT
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 90%
CHRNA1
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 94%
CHRNB1
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 100%
CHRND
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 100%
CHRNE
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 98%
COLQ
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 99%
DOK7
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 94%
GFPT1
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 97%
LRP4
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 100%
MUSK
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 100%
RAPSN
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 100%
SNAP25
weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 99%
Congenital myopathy
ACTA1
congenital hypotonia, generalized weakness, failure to thrive, scoliosis
NewbornDx™Coverage: 100%
CNTN1
severe hypotonia, muscle weakness, no spontaneous movements shortly after birth
NewbornDx™Coverage: 98%
HACD1
congenital myopathy, severe hypotonia, areflexia, weak cry, facial weakness, mildly delayed motor development
NewbornDx™Coverage: 93%
Congenital myopathy with fiber type disproportion
TPM3
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
Congenital neuromuscular disease with uniform type 1 fiber
RYR1
mild congenital myopathy, motor developmental delay, mild proximal weakness most pronounced in the hip girdle musculature, risk of malignant hyperthermia, neonatal hypotonia, generalized muscle weakness and amyotrophy, fetal akinesia, arthrogryposis, lung hypoplasia, hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, rhabdomyolysis due to anesthesia
NewbornDx™Coverage: 97%
Congenital nystagmus
FRMD7
conjugate, horizontal oscillations of the eyes (primary or eccentric gaze)
NewbornDx™Coverage: 96%
Congenital primary aphakia
FOXE3
absence of lens
NewbornDx™Coverage: 46%
Congenital severe neutropenia
G6PC3
severe neutropenia with recurrent infections, congenital heart defects, urogenital anonamlies, growth hormone deficiency
NewbornDx™Coverage: 100%
Congenital short bowel syndrome
CLMP
short intestine
NewbornDx™Coverage: 100%
Congenital stationary night blindness
CACNA1F
decreased visual acuity, loss of night vision
NewbornDx™Coverage: 99%
GPR179
impairment of night vision can be slowly progressive
NewbornDx™Coverage: 100%
GRM6
impaired night vision, decreased visual acuity, nystagmus, myopia, strabismus
NewbornDx™Coverage: 97%
LRIT3
impaired night vision, decreased visual acuity, nystagmus, myopia, strabismus
NewbornDx™Coverage: 100%
NYX
decreased peripheral vision/night vision, nystagmus, decreased central vision
NewbornDx™Coverage: 98%
TRPM1
myopia, reduced central vision, nystagmus, reduced rod electroretinographic
NewbornDx™Coverage: 98%
Congenital symmetric circumferential skin creases
TUBB
folding of excess skin of the limbs, intellectual disability, cleft palate, dysmorphic features
NewbornDx™Coverage: 98%
Congenital variant Rett syndrome
FOXG1
progressive postnatal microcephaly, neonatal hypotonia, neonatal irritability, developmental regression at 6 months, abnormal breathing patterns, seizures onset at 3 months
NewbornDx™Coverage: 81%
Congential insensitivity to pain with anhidrosis
NTRK1
congenital insensitivity to pain, anhidrosis, recurrent fevers
NewbornDx™Coverage: 100%
Conotruncal heart malformations
NKX2-6
congenital heart defect, persistent truncus arteriosus
NewbornDx™Coverage: 100%
Coproporphyria
CPOX
neonatal hemolytic anemia, massive excretion of harderoporphyrin in feces
NewbornDx™Coverage: 100%
Cornelia de Lange syndrome
HDAC8
severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature, small hands, postnatal growth retardation, facial dysmorphism
NewbornDx™Coverage: 97%
NIPBL
facial dysmorphism, pre- and postnatal growth retardation, mental retardation, upper limb anomalies
NewbornDx™Coverage: 93%
SMC1A
severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature, small hands, dysmorphic facial features, postnatal growth retardation
NewbornDx™Coverage: 100%
SMC3
severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature, small hands, dysmorphic facial features, postnatal growth retardation
NewbornDx™Coverage: 86%
Coronary artery disease
MEF2A
reduced or absent blood flow in one or more of the arteries that encircle and supply the heart
NewbornDx™Coverage: 95%
Corticosterone methyloxidase deficiency
CYP11B2
salt wasting, metabolic acidosis, vomiting, nausea, failure to thrive, seizures, coma
NewbornDx™Coverage: 100%
Costello syndrome
HRAS
failure to thrive, short stature, developmental delay or intellectual disability, coarse facial features, curly or sparse fine hair, soft skin with deep palmar and plantar creases, diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers, cardiac involvement, relative or absolute macrocephaly
NewbornDx™Coverage: 98%
COUSIN syndrome
TBX15
complex cranial, cervical, auricular, and skeletal malformation syndrome, scapular and pelvic hypoplasia
NewbornDx™Coverage: 100%
Cowden syndrome
PTEN
Cowden syndrome (macrocephaly, trichilemmomas, papillomatous papules, risk of benign and malignant tumors), Bannayan-Riley-Ruvalcaba syndrome (macrocephaly, intestinal hamartomatous polyposis, lipomas, pigmented macules of the glans penis), Proteus syndrome (hamartomatous overgrowth of multiple tissues, connective tissue nevi, epidermal nevi, hyperostoses), Proteus-like syndrome
NewbornDx™Coverage: 95%
Cowden syndrome/Gastric stromal sarcoma/Paraganglioma/Pheochromocytoma/Renal cell carcinoma
SDHB
risk for various types of tumors
NewbornDx™Coverage: 100%
Cranioectodermal dysplasia
IFT122
sagittal craniosynostosis (dolichocephaly), frontal bossing, abnormal teeth position, enamel dysplasia, small teeth, narrow chest, bicuspid aortic valve, hypotelorism, telecanthus, hapatomegaly, progressive renal failure, rhizomelic limb shortening, sparse hair, fine hair, hypocalcemia, short and thin nails, brachydactyly
NewbornDx™Coverage: 100%
IFT43
narrow thorax, shortened proximal limbs, brachydactyly, widely-spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails, joint laxity, growth retardation, characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus/epicanthus, full cheeks, everted lower lip), nephronophthisis leading to end-stage renal failure, dolichocephaly, hepatic fibrosis, retinal dystrophy
NewbornDx™Coverage: 100%
WDR35
craniosynostosis, narrow rib cage, short limbs, brachydactyly, ectodermal defects, nephronophthisis, hepatic fibrosis, retinitis pigmentosa
NewbornDx™Coverage: 98%
Craniofacial-deafness-hand syndrome
PAX3
absent pigmentation of the medial forehead and eyebrows, white forelock, hyperpigmented borders surrounding the unpigmented areas
NewbornDx™Coverage: 100%
Craniofaciocutaneous syndrome
MAP2K2
cardiac abnormalities, distinctive craniofacial appearance, skin abnormalities, sparse, curly, fine or thick, woolly or brittle hair, absent or sparse eyelashes and eyebrows
NewbornDx™Coverage: 92%
Craniometaphyseal dysplasia
ANKH
deposition of crystals of calcium pyrophosphate dihydrate in articular hyaline and fibro-cartilage
NewbornDx™Coverage: 100%
Cranioosteoarthropathy
HPGD
digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, congenital heart disease
NewbornDx™Coverage: 100%
Craniosynostosis
ERF
prominent forehead, hypertelorism, exorbitism, midface hypoplasia, retrognathia, variable synostosis
NewbornDx™Coverage: 100%
TCF12
premature fusion of the cranial sutures (coronal, sagittal, and multisuture forms)
NewbornDx™Coverage: 99%
Crigler-Najjar syndrome
UGT1A1
jaundice, kernicterus, lethargy, hypertonia
NewbornDx™Coverage: 100%
Crouzon syndrome
FGFR2
turribrachycephalic skull shape, moderate-to-severe midface hypoplasia, syndactyly of fingers
NewbornDx™Coverage: 100%
Culler-Jones syndrome
GLI2
hypopituitarism, growth hormone deficiency, and/or postaxial polydactyly
NewbornDx™Coverage: 99%
Cutis laxa
ALDH18A1
loose, hyperextensible skin with decreased resilience and elasticity
NewbornDx™Coverage: 100%
ATP6V0A2
furrowing of the skin of the whole body, droopy skin on cheeks, no skin hyperelasticity, enlarged fontanelles, congenital hip dislocation, inguinal hernia, high myopia, cortical and cerebellar malformation
NewbornDx™Coverage: 95%
EFEMP2
emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, fragility of blood vessels
NewbornDx™Coverage: 90%
FBLN5
furrowing of the skin of the whole body, pulmonary emphysema, peripheral pulmonary artery stenosis
NewbornDx™Coverage: 100%
LTBP4
loose and/or wrinkled skin causing prematurely aged appearance
NewbornDx™Coverage: 98%
PYCR1
congenital wrinkly skin on the dorsa of the hands and feet and anterior abdominal wall, prominent veins on the chest, hyperextensibility of the small joints of the hands and feet, intrauterine growth retardation, developmental delay, congenital dislocation of hips, osteoporosis, microcephaly
NewbornDx™Coverage: 100%
Cystic fibrosis
CFTR
chronic sinopulmonary disease, pancreatic abnormalities, salt-loss syndromes
NewbornDx™Coverage: 94%
Cystinosis/Nephropathic cystinosis/Non-nephropathic ocular cystinosis
CTNS
short stature in 1st year, failure to thrive, decreased visual acuity, corneal crystals, rachitic rosary, pancreatic insufficiency, splenomegaly, renal failure, hypophosphatemic rickets, delayed bone age, normal intelligence
NewbornDx™Coverage: 100%
Cystinuria
SLC3A1
urinary tract infections, nephrolithiasis of the kidney, ureter, bladder, elevated urinary cystine, lysine, arginine, ornithine
NewbornDx™Coverage: 100%
SLC7A9
urinary tract infections, nephrolithiasis of the kidney, ureter, bladder, elevated urinary cystine, lysine, arginine, ornithine
NewbornDx™Coverage: 100%
Cytosolic phosphoenolpyruvate carboxykinase-1 deficiency
PCK1
seizures, cerebral atrophy, hypoglycemia, optic atrophy, fatty infiltration of liver, kidney and heart, episodic apnea, severe developmental delay, cyanosis
NewbornDx™Coverage: 100%
D
D-2-hydroxyglutaric aciduria
D2HGDH
macrocephaly, hypotonia, cardiomyopathy, developmental delay, encephalopathy, apnea, episodic vomiting, brain malformations
NewbornDx™Coverage: 100%
D-bifunctional protein deficiency
HSD17B4
congenital severe to profound sensorineural hearing loss, premature ovarian failure (POF) secondary to ovarian dysgenesis, normal pubertal development for males
NewbornDx™Coverage: 99%
D-glyceria aciduria
GLYCTK
microcephaly, severe mental retardation, hypotonia, seizures, failure to thrive, respiratory distress, delayed myelination, increased D-glyceric acid in serum, urine, and CSF
NewbornDx™Coverage: 100%
Dandy-Walker malformation with occipital cephalocele
NID1
Dandy-Walker malformation with occipital cephalocele
NewbornDx™Coverage: 100%
Dehydrated hereditary stomatocytosis
PIEZO1
hemolytic anemia, perinatal edema, increased reticulocyte count
NewbornDx™Coverage: 100%
Dent disease
CLCN5
low molecular weight proteinuria, hypercalciuria, chronic kidney disease
NewbornDx™Coverage: 99%
Desanto-Shinawi syndrome
WAC
global developmental delay, dysmorphic facial features
NewbornDx™Coverage: 93%
Desbuquois dysplasia
CANT1
short stature, joint laxity, short extremities, progressive scoliosis
NewbornDx™Coverage: 100%
XYLT1
dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, flat face with prominent eyes
NewbornDx™Coverage: 88%
Desmosterolosis
DHCR24
multiple congenital anomalies, elevated levels of the cholesterol precursor
NewbornDx™Coverage: 100%
Diabetes mellitus and renal disease
LHX1
renal cysts, diabetes
NewbornDx™Coverage: 100%
Diamond-Blackfan anemia
RPL11
thumb abnormalies, pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 100%
RPL15
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 88%
RPL26
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 99%
RPL35A
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 100%
RPL5
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity, cleft lip and/or cleft palate, heart defect and cranifacial anomalies (severe)
NewbornDx™Coverage: 92%
RPS10
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 100%
RPS19
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 100%
RPS24
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 100%
RPS26
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 100%
RPS28
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 100%
RPS29
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 96%
RPS7
pallor, weakness, failure to thrive, abnormal growth (some cases), congenital craniofacial/upper-limb/heart/GU malformations, macrocytic anemia, no other significant cytopenias, reticulocytopenia, normal marrow cellularity
NewbornDx™Coverage: 97%
TSR2
pallor, weakness, failure to thrive, macrocytic anemia
NewbornDx™Coverage: 90%
Diastrophic dysplasia
SLC26A2
malformations of the hands, feet, knees, scoliosis, disorder of cartilage and bone development
NewbornDx™Coverage: 100%
DICER1-syndrome
DICER1
risk for tumors including pleuropulmonary blastoma, ovarian sex cord-stromal tumors, cystic nephroma, thyroid gland neoplasia, rhabdomyosarcoma
NewbornDx™Coverage: 99%
Dihydrolipoamide dehydrogenase deficiency
DLD
lactic acidosis, hypotonia, poor feeding, recurrent vomiting, hypoglycemia, lethargy, microcephaly, hepatomegaly, delayed psychomotor development, episodic encephalopathy, optic atrophy
NewbornDx™Coverage: 99%
Dihydropyrimidine dehydrogenase deficiency
DPYD
microcephaly, failure to thrive, optic atrophy, structural eye abnormalities, seizures, hypotonia, hypertonia, white matter abnormalities
NewbornDx™Coverage: 97%
Dihydropyrimidinuria
DPYS
potentially life-threatening toxic reactions to fluoropyrimidines including gastrointestinal problems and blood abnormalities
NewbornDx™Coverage: 100%
Dilated cardiomyopathy
MYH6
hypertrophic cardiomyopathy, atrial septal defect (ASD)
NewbornDx™Coverage: 100%
MYH7
muscle weakness, dilated cardiomyopathy
NewbornDx™Coverage: 100%
SCN5A
syncope, presyncope, dizziness, fatigue, sinus bradycardia, sinus arrest, sinoatrial block, absent P waves, atrial inexcitability, prolonged QRS duration, prolonged His-ventricle conduction time, ventricular escape rhythms, atrial arrhythmias, intraventricular conduction defects, progressive alteration of cardiac conduction
NewbornDx™Coverage: 100%
Distal arthrogryposis
ECEL1
camptodactyly of the hands, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee
NewbornDx™Coverage: 96%
MYBPC1
respiratory insufficiency, severe multiple joint contractures, muscle wasting and atrophy primarily in legs
NewbornDx™Coverage: 100%
MYH3
contractures of the hands and feet, very small oral orifice
NewbornDx™Coverage: 100%
TNNI2
clenched fist, overlapping fingers, camptodactyly, ulnar deviation, positional foot deformities from birth
NewbornDx™Coverage: 100%
TNNT3
clenched fist, overlapping fingers, camptodactyly, ulnar deviation, positional foot deformities from birth
NewbornDx™Coverage: 91%
TPM2
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
Distal renal tubular acidosis
SLC4A1
short stature, failure to thrive, hepatosplenomegaly, nephrocalcinosis, distal renal tubular acidosis, rachitic bone changes
NewbornDx™Coverage: 100%
Distal renal tubular acidosis with progressive nerve deafness
ATP6V1B1
sensorineural hearing loss, enlarged vestibular aqueduct, renal tubular acidosis, kidney stones, metabolic acidosis, risk of rickets
NewbornDx™Coverage: 100%
Donnai-Barrow syndrome
LRP2
facial anomalies, developmental ocular anomalies, sensorineural hearing loss, proteinuria
NewbornDx™Coverage: 100%
DOOR syndrome
TBC1D24
microcephaly, coarse facies, sensorineural hearing loss, optic atrophy, small or absent distal phalanges of hands and feet, hypotonia, cerebral atrophy, seizures
NewbornDx™Coverage: 100%
Dopa-responsive dystonia
SPR
microcephaly, failure to thrive, oculogyric crises, delayed psychomotor development, seizures, spasticity, hypotonia
NewbornDx™Coverage: 100%
Dopamine beta-hydroxylase deficiency
DBH
delay in opening of the eyes, ptosis, hypotension, hypoglycemia, hypothermia
NewbornDx™Coverage: 100%
Dowling-Degos disease
KRT5
reticular pigmentation (usually flexural distribution), numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen
NewbornDx™Coverage: 100%
Duane retraction syndrome
CHN1
restricted horizontal eye movement with globe retraction
NewbornDx™Coverage: 99%
Duane-radial ray syndrome
SALL4
radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), ocular coloboma, Duane anomaly, SNHL
NewbornDx™Coverage: 100%
Dubin-Johnson syndrome
ABCC2
conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, normal liver function
NewbornDx™Coverage: 100%
Duchenne muscular dystrophy
DMD
progressive symmetric muscle weakness and atrophy, preservation of neck flexor muscle strength
NewbornDx™Coverage: 98%
Dyggve-Melchior-Clausen disease
DYM
progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, intellectual disability
NewbornDx™Coverage: 97%
Dysautonomia
IKBKAP
poor growth, corneal ulceration, episodic hypertension, postural hypotension without compensatory tachycardia, recurrent infections, constipation, diarrhea, impaired renal function, hypotonia, decreased pain and temperature perception
NewbornDx™Coverage: 97%
Dyskeratosis congenita
DKC1
abnormal skin pigmentation, nail dystrophy, leukoplakia of the oral mucosa
NewbornDx™Coverage: 94%
RTEL1
nail dystrophy, leukoplakia, bone marrow failure, severe B-cell immunodeficiency, intrauterine growth retardation, growth retardation, microcephaly, cerebellar hypoplasia, esophageal dysfunction
NewbornDx™Coverage: 97%
TERT
short stature, failure to thrive, microcephaly, dilated cardiomyopathy, pulmonary fibrosis, bluish discoloration of tongue, nail dystrophy, gray forelock, premature graying, thrombocytopenia
NewbornDx™Coverage: 98%
TINF2
mucosal leukoplakia, nail dysplasia, abnormal skin pigmentation
NewbornDx™Coverage: 100%
Dysplasminogenemia
PLG
chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation
NewbornDx™Coverage: 99%
Dysprothrombinemia/Hypoprothrombinemia/Thrombophilia
F2
reduce the activity of prothrombin, severe bleeding episodes
NewbornDx™Coverage: 100%
Dystonia
SLC2A1
epilepsy, developmental delay, intellectual disability, postnatal microcephaly, spasticity, ataxia, lethargy, myoclonus
NewbornDx™Coverage: 100%
E
Ectodermal dysplasia
EDA
hyptorichosis, hypohidrosis, hypodontia
NewbornDx™Coverage: 83%
EDAR
hyptorichosis, hypohidrosis, hypodontia
NewbornDx™Coverage: 100%
EDARADD
hyptorichosis, hypohidrosis, hypodontia
NewbornDx™Coverage: 99%
HOXC13
hypotrichosis, nail dystrophy of all 20 digits by causing short fragile nails or spoon nails
NewbornDx™Coverage: 87%
NFKBIA
recurrent infections, chronic diarrhea, failure to thrive, hepatosplenogmegaly
NewbornDx™Coverage: 100%
Ectodermal dysplasia/skin fragility syndrome
PKP1
trauma-induced skin fragility, congenital ectodermal dysplasia affecting hair, nails, and sweat glands
NewbornDx™Coverage: 100%
Ehlers-Danlos syndrome
B4GALT7
wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, periodontitis, skin hyperextensibility, widened atrophic scars, joint hypermobility
NewbornDx™Coverage: 94%
CHST14
craniofacial dysmorphism, hyperextensible thin skin, atrophic scarring, easy bruising, small joint hypermobility, hands with finely wrinkled palms and tapered fingers, congenital contractures of distal joints, scoliosis, hypotonia
NewbornDx™Coverage: 95%
COL1A1
irritability, fever, soft tissue swelling, subperiosteal cortical hyperostosis of the diaphyses of the long bones, ribs, scapulea, clavicles, mandible
NewbornDx™Coverage: 99%
COL1A2
skin hyperextensibility, abnormal wound healing, joint hypermobility
NewbornDx™Coverage: 99%
COL3A1
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 94%
COL5A1
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 96%
COL5A2
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 97%
FKBP14
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 100%
PLOD1
skin hyperextensibility, articular hypermobility, tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 100%
Eiken syndrome
PTH1R
short limbs, polyhydramnios, hydrops fetalis, facial anomalies (mid-facial hypoplasia), increased bone density, advanced skeletal maturation, death during infancy
NewbornDx™Coverage: 98%
Elevated extracellular superoxide dismutase,
SOD3
important for scavenger of superoxide anion
NewbornDx™Coverage: 81%
Elliptocytosis
SPTA1
elliptically shaped erythrocytes, hemolytic anemia/anemia, jaundice, splenomegaly
NewbornDx™Coverage: 100%
Ellis-van Creveld syndrome
EVC
short-limb dwarfism, normocephaly, neonatal teeth, short ribs, narrow chest, difficulty forming a fist, postaxial polydactyly, nail dysplasia, genu valgum
NewbornDx™Coverage: 94%
EVC2
short-limb dwarfism, normocephaly, neonatal teeth, short ribs, narrow chest, difficulty forming a fist, postaxial polydactyly, nail dysplasia, genu valgum
NewbornDx™Coverage: 96%
Emery-Dreifuss muscular dystrophy
SYNE1
proximal muscle weakness and atrophy, neck muscle weakness and atrophy, ventricular and septal hypertrophy, elevated CK
NewbornDx™Coverage: 99%
SYNE2
proximal muscle weakness and atrophy, elevated serum CK, respiratory insufficiency, cardiomyopathy, arrhythmias
NewbornDx™Coverage: 94%
TMEM43
arrhythmogenic right ventricular dysplasia
NewbornDx™Coverage: 96%
Encephalopathy due to defective mitochondrial and peroxisomal fission
DNM1L
failure to thrive, poor feeding, microcephaly, optic atrophy, hypotonia, no development, little spontaneous movement, abnormal gyral patterns of frontal lobes
NewbornDx™Coverage: 94%
Endocrine-cerebroosteodysplasia
ICK
comprising endocrine, cerebral, and skeletal abnormalities
NewbornDx™Coverage: 97%
Enlarged vestibular aqueduct
SLC26A4
congenital neurosensory deafness, cochlear malformation, goiter, thyroid dysfunction
NewbornDx™Coverage: 95%
Epidermolysis bullosa
CD151
nephritis, recurrent infected skin blisters of the legs, nail dystrophy, bilateral lacrimal duct stenosis, sensorineural hearing loss
NewbornDx™Coverage: 100%
COL17A1
non-scarring blistering limited to the hands, feet, knees, and elbows, hypodontia, extensive enamel hypoplasia, dystrophic changes of the fingernails and toenails
NewbornDx™Coverage: 99%
COL7A1
fragile skin which heals with scarring and milia, skin blistering, dystrophic nails
NewbornDx™Coverage: 100%
DSP
progressive erosions without blistering, alopecia and loss of nails, neonatal teeth, pseudosyndactyly, clinodactyly, ear helices abnormalities
NewbornDx™Coverage: 99%
DST
trauma-induced blistering mainly occurring on the feet and ankles, blisters and erosions healed without delay, scarring, or milia formation
NewbornDx™Coverage: 100%
EXPH5
trauma-induced scale crusts and intermittent skin blistering, mild diffuse mottled hyper- and hypopigmentation on the trunk and proximal limbs
NewbornDx™Coverage: 100%
ITGA6
epidermolysis bullosa junctional, generalized blister, congenital absence of skin on some areas (aplasia cutis), atrophic scarring, absent nails, dystrophic nails, pyloric atresia, rudimentary ears, blistering of upper esophagus
NewbornDx™Coverage: 98%
ITGB4
generalized blistering, congenital absence of skin on some areas (aplasia cutis), atrophic scarring, absent nails, dystrophic nails, pyloric atresia, rudimentary ears, blistering of upper esophagus
NewbornDx™Coverage: 97%
KRT14
recurrent blistering and cleavage within basal keratinocytes, painful blistering affecting the lateral, dorsal, and plantar aspects of the feet after walking or minor trauma, epidermolysis bullosa simplex, Dowling-Meara type: generalized blistering that often occurs in clusters (herpetiform), hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells
NewbornDx™Coverage: 100%
KRT5
reticular pigmentation (usually flexural distribution), numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen
NewbornDx™Coverage: 100%
LAMA3
junctional epidermolysis bullosa, severe blistering and granulation tissue around the oral and nasal cavities, fingers, toes, and the upper airway(internal), laryngoonychocutaneous syndrome, hoarse cry, skin ulceration, recurrent loss of toenails and fingernails, conjunctival scarring, chronic bleeding, crusted lesions of the skin of the face
NewbornDx™Coverage: 100%
LAMB3
blistering with little or no trauma
NewbornDx™Coverage: 100%
LAMC2
blistering with little or no trauma
NewbornDx™Coverage: 99%
PLEC
epidermolysis bullosa simplex with pyloric atresia, severe skin blistering at birth, congenital pyloric atresia, epidermolysis bullosa simplex (Ogna type)
NewbornDx™Coverage: 100%
Epilepsy, hearing loss, and mental retardation syndrome
SPATA5
delayed psychomotor development, intellectual disability, microcephaly, seizures (tonic-clonic, myoclonic, and/or absence seizures), hypertonia, nonverbal, cortical visual impairment, hearing loss, diffuse atrophy, cortical atrophy, thin corpus callosum, hypomyelination
NewbornDx™Coverage: 100%
Epileptic encephalopathy
ALG13
microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections, increased bleeding tendency
NewbornDx™Coverage: 89%
ARHGEF9
exaggerated startle response, seizures, impaired psychomotor development, mental retardation
NewbornDx™Coverage: 99%
ARX
intellectual disability, focal dystonia, infantile spasms with intellectual disability, lissencephaly with total or severe partial agenesis of the corpus callosum, abnormal genitalia (males), recurrent seizures and brain malformations (females)
NewbornDx™Coverage: 66%
CDKL5
seizures, severe global developmental delay, progressive microcephaly, dysmorphic facial features
NewbornDx™Coverage: 95%
CHD2
refractory seizures, cognitive slowing or regression
NewbornDx™Coverage: 94%
CLCN4
epileptic encephalopathy, microcephaly, delayed psychomotor development, hypotonia, dystonia
NewbornDx™Coverage: 99%
DNM1
normal physical examination at birth, therapy-resistant seizures, severe or profound intellectual disability with no speech, hypotonia
NewbornDx™Coverage: 93%
DOCK7
intractable seizures, hypsarrhythmia, structural brain malformation, regression of early motor skills, cortical visual impairment
NewbornDx™Coverage: 96%
EEF1A2
hypotonia, refractory seizures with hypsarrhythmia, severe developmental delay with episodic regression, acquired microcephaly, hypotonia, incoordination
NewbornDx™Coverage: 100%
GABRA1
seizures, mild-to-moderate intellectual disability
NewbornDx™Coverage: 100%
GNAO1
EEG shows suppression-burst pattern, hypsarrhythmia, multifocal spike waves, lack of psychomotor development, lack of speech, cerebral atrophy, delayed myelination
NewbornDx™Coverage: 100%
GRIN2B
seizures, intellectual disability, hypotonia, hypsarrhythmia seen on EEG, psychomotor delay
NewbornDx™Coverage: 100%
HCN1
seizures, cognitive impairment
NewbornDx™Coverage: 96%
KCNA2
normal early development until the onset of seizures between 5 and 17 months of age
NewbornDx™Coverage: 100%
KCNB1
hypotonia, excessive somnolence, poorly controlled generalized tonic-clonic seizures, cognitive and motor developmental delay
NewbornDx™Coverage: 100%
KCNH5
normal development until 6 months, intractable generalized tonic-clonic seizures, developmental regression, hypotonia
NewbornDx™Coverage: 100%
KCNQ2
seizures (clonic and tonic), generalized stiffening, global developmental delay, intellectual disability, hypotonia, dystonia, spastic quadriparesis, automatisms
NewbornDx™Coverage: 99%
KCNT1
refractory focal seizures, arrest of psychomotor development
NewbornDx™Coverage: 97%
MECP2
arrested development between 6 and 18 months of age, microcephaly, seizures, ataxia, dystonia, sleep disturbance, breath holding, small feet, short stature, constipation
NewbornDx™Coverage: 97%
NECAP1
decreased fetal movement, poor feeding, hypotonia, intractable seizures, severe axial hypotonia with appendicular hypertonia, profound global developmental delay
NewbornDx™Coverage: 100%
PCDH19
seizures, behavorial manifestations, developmental regression
NewbornDx™Coverage: 99%
PIGQ
EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases
NewbornDx™Coverage: 100%
PLCB1
seizures, generalized slowing of EEG, hypsarrhythmia, hyperreflexia, regression after onset of seizures, axial hypotonia, global developmental delay
NewbornDx™Coverage: 96%
SCN2A
mild cerebral atrophy with wider left lateral ventricle, severe intellectual and psychomotor retardation
NewbornDx™Coverage: 97%
SCN8A
developmental delay, intellectual disability, hypotonia, difficulties with coordination and balance, EEG findings include bifrontal spikes and brief bursts of generalized spike-wave activity, multifocal spikes, and frontally predominant generalized spikes
NewbornDx™Coverage: 100%
SIK1
semyoclonic, generalized tonic-clonic, and atonic seizures, as well as infantile spasms, severe developmental delay, poor feeding, poor visual and auditory responses, respiratory insufficiency
NewbornDx™Coverage: 100%
SLC12A5
seizures within the first months of life and included myoclonic, generalized tonic-clonic, and atonic seizures, as well as infantile spasms, severe developmental delay, developmental regression after seizures, cerebral atrophy
NewbornDx™Coverage: 100%
SLC13A5
seziures onset within first hours of life to 7 days of life, cyanosis, clonic movements, abnormal ocular movements, status epilepticus, severe delayed development with lack of speech, axial hypotonia, peripheral hypertonia, dystonia, choreoathetosis
NewbornDx™Coverage: 100%
SLC25A12
severe developmental delay, hypotonia, hypomyelination, seizures, episodic apnea, delayed myelination, cerebral volume loss
NewbornDx™Coverage: 99%
SLC25A22
erratic refractory seizures, usually myoclonic, death within 1-2 years, hypotonia
NewbornDx™Coverage: 100%
SPTAN1
progressive microcephaly, intractable tonic seizures, severe to profound intellectual disability, hypotonia, hyperreflexia, diffuse hypomyelination, thin corpus callosum, cerebral atrophy, cerebellar atrophy, brainstem atrophy
NewbornDx™Coverage: 100%
ST3GAL3
infantile spasms, poor eye contact, hypotonia, irritability, profound intellectual disbility
NewbornDx™Coverage: 100%
STXBP1
seizures (clonic-tonic, tonic, myoclonic, absence, atonic, focal dyscognitive seizures), hypsarrhythmia, status epilepticus, developmental regression, hypotonia, severe intellectual disability
NewbornDx™Coverage: 99%
SZT2
lack of psychomotor development, dysmorphic facial features, refractory seizures, thick corpus callosum, persistent cavum septum pellucidum, hypotonia
NewbornDx™Coverage: 100%
TBC1D24
microcephaly, coarse facies, sensorineural hearing loss, optic atrophy, small or absent distal phalanges of hands and feet, hypotonia, cerebral atrophy, seizures
NewbornDx™Coverage: 100%
WWOX
microcephaly, poor growth, lack of psychomotor development, intractable seizures, myoclonic movements, hyperreflexia, decreased vision
NewbornDx™Coverage: 100%
Epileptic encephalopathy, global delay, and cerebellar atrophy
CACNA2D2
epileptic encephalopathy, hypertonia, abnormal eye movement, global developmentl delay, cerebellar atrophy
NewbornDx™Coverage: 93%
Epimerase-deficienct galactosemia
GALE
hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, liver dysfunction, aminoaciduria, cataracts
NewbornDx™Coverage: 100%
Epiphyseal chondrodysplasia
NPR2
severe dwarfism, dolichocephalic, short truck, decreased vertebral height, narrowing of the lumbar interpedicular distances
NewbornDx™Coverage: 100%
Epstein syndrome
MYH9
bilateral SNHL of high frequency, mild bleeding episodes, renal involvement
NewbornDx™Coverage: 100%
Erythrokeratodermia variabilis with erythema gyratum repens
GJB4
widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses
NewbornDx™Coverage: 100%
Erythropoietic protoporphyria
FECH
light-sensitive dermatitis, itching and burning, develop erythema even after brief exposure to bright light
NewbornDx™Coverage: 99%
Escobar syndrome
CHRNG
webbing (pterygia) of the neck, elbows, and/or knees, joint contractures, muscle atrophy, dysmorphism, skeletal anomalies
NewbornDx™Coverage: 100%
Essential hypertension
NOS3
risk factor for essential hypertension
NewbornDx™Coverage: 96%
PDE5A
increase risk of cardiovascular events when given Sildenafil
NewbornDx™Coverage: 98%
Ethylmalonic encephalopathy
ETHE1
developmental delay, developmental regression, hypotonia, seizures, petechiae, acrocyanosis, chronic diarrhea, failure to thrive, lactic acidosis
NewbornDx™Coverage: 99%
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosi
COX4I2
pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis
NewbornDx™Coverage: 100%
Exudative vitreoretinopathy
LRP5
incomplete development of the retinal vasculature, decreased visual acuity
NewbornDx™Coverage: 98%
F
Fabry Disease
GLA
angiokeratomas, acroparesthesias (episodic pain crises), hypohidrosis, cardiac disease, cerebrovascular manifestations
NewbornDx™Coverage: 100%
Factor V Leiden thrombophilia
F5
venous thromboembolism, deep vein thrombosis, pulmonary embolism
NewbornDx™Coverage: 98%
Factor VII deficiency
F7
epistaxis, menorrhagia, hemarthrosis, intramuscular hematomas, intracranial hemorrhage
NewbornDx™Coverage: 100%
Factor X deficiency
F10
prolonged or excessive bleeding following surgery or trauma, easy bleeding
NewbornDx™Coverage: 99%
Factor XI deficiency
F11
bleeding disorder characterized by reduced levels of factor XI in plasma
NewbornDx™Coverage: 97%
Factor XIII subunit deficiency
F13A1
abnormal bleeding from the umbilical cord stump, risk of spontaneous bleeing, easy bruising, abnormal scar formation
NewbornDx™Coverage: 100%
F13B
increased bleedin, poor wound healing
NewbornDx™Coverage: 96%
Familial atrial fibrillation
SCN4B
prolongation of corrected QT interval, long isoelectric ST segment, late-onset T wave, atrial fibrillation, atrioventricular node block
NewbornDx™Coverage: 100%
SCN5A
syncope, presyncope, dizziness, fatigue, sinus bradycardia, sinus arrest, sinoatrial block, absent P waves, atrial inexcitability, prolonged QRS duration, prolonged His-ventricle conduction time, ventricular escape rhythms, atrial arrhythmias, intraventricular conduction defects, progressive alteration of cardiac conduction
NewbornDx™Coverage: 100%
Familial cutaneous telangiectasia and cancer syndrome
ATR
microcephaly, short stature, pre- and post-natal growth retardation, micrognathia, seizures, intellectual disability, dysmorphic facial features
NewbornDx™Coverage: 97%
Familial dyskinesia
ADCY5
involuntary choreiform or dystonic movements of limb and facial muscles
NewbornDx™Coverage: 95%
Familial encephalopathy with neuroserpin inclusion bodies
SERPINI1
progressive myoclonic epilepsy, aggressive behavior, intellectual decline
NewbornDx™Coverage: 97%
Familial epilepsy
CHRNA7
schizophrenia, epilepsy
NewbornDx™Coverage: 99%
DEPDC5
focal seizures
NewbornDx™Coverage: 99%
EFHC1
seizures including absence seizures, generalized tonic-clonic seizures, myoclonic seizures
NewbornDx™Coverage: 99%
GABRB3
eyelid myoclonias, photic sensitivity, generalized tonic-clonic seizures
NewbornDx™Coverage: 100%
GABRD
idiopathic generalized epilepsy
NewbornDx™Coverage: 95%
GABRG2
early-onset isolated febrile seizures to generalized epilepsy
NewbornDx™Coverage: 92%
KCND2
infantile-onset severe refractory epilepsy, autism, poor expressive speech
NewbornDx™Coverage: 99%
LGI1
temporal lobe epilepsy
NewbornDx™Coverage: 100%
SCN1A
early-onset isolated febrile seizures, generalized epilepsy with febrile seizures
NewbornDx™Coverage: 99%
SCN9A
generalized epilepsy with febrile seizures
NewbornDx™Coverage: 98%
STX1B
febrile/afebrile seizures
NewbornDx™Coverage: 100%
TNK2
focal seizures, delayed psychomotor development, hypertonia
NewbornDx™Coverage: 100%
Familial episodic pain syndrome
SCN11A
intense episodic pain (mainly distal lower extremities), episodes dimish with age
NewbornDx™Coverage: 99%
TRPA1
episodic debilitating upper body pain triggered by fasting, cold, and physical stress
NewbornDx™Coverage: 88%
Familial hemiplegic migraine
ATP1A2
migraine with visual disturbanaces, sensory loss (numbness or paresthesias of the face or extremity), dysphasia, weakness of extremity
NewbornDx™Coverage: 100%
Familial hemophagocytic lymphohistiocytosis
PRF1
proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly
NewbornDx™Coverage: 100%
STXBP2
anemia, granulocytopenia, thrombocytopenia
NewbornDx™Coverage: 98%
UNC13D
fever, hepatosplenomegaly, pancytopenia, coagulation abnormality, liver dysfunction
NewbornDx™Coverage: 100%
Familial hyperinsulinism
ABCC8
large for gestational age, diffuse islet cell hyperplasia, hypoglycemia seizures
NewbornDx™Coverage: 99%
GCK
low birth weight, limb contractures, clinodactyly, muscle weakness, seizures, hypotonia, hyperglycemia
NewbornDx™Coverage: 100%
HADH
poor growth, liver disease (hepatic necrosis, hepatic steatosis), poor feeding, hypotonia, seizures, hypoglycemia
NewbornDx™Coverage: 99%
KCNJ11
large for gestational age, diffuse islet cell hyperplasia, hypoglycemia, hyperinsulinemia
NewbornDx™Coverage: 100%
Familial hypocalciuric hypercalcemia
AP2S1
generally asymptomatic, chondrocalcinosis, lipomas, pancreatitis, peptic ulcer uncommon, hypocalciuria, hypercalcemia, hypermagnesemia
NewbornDx™Coverage: 100%
GNA11
generally asymptomatic, hypocalcemia, muscle cramps
NewbornDx™Coverage: 100%
Familial lipoprotein lipase deficiency
LPL
lipemia retinalis, hyperlipemia, hyperchylomicronemia, hepatosplenomegaly, splenomegaly, pancreatitis
NewbornDx™Coverage: 100%
Familial Mediterranean fever
MEFV
recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis
NewbornDx™Coverage: 100%
Familial myoclonic epilepsy
TBC1D24
microcephaly, coarse facies, sensorineural hearing loss, optic atrophy, small or absent distal phalanges of hands and feet, hypotonia, cerebral atrophy, seizures
NewbornDx™Coverage: 100%
Familial osteochondritis dissecans
ACAN
multiple osteochondritic lesions, disproportionate short stature, early-onset osteoarthritis (OA)
NewbornDx™Coverage: 99%
Familial paroxysmal kinesigenic dyskinesia
PRRT2
episodic kinesigenic dyskinesia, episodic involuntary movements (dyskinesia, choreoathetosis, dystonia), orofacial dyskinesia, incomplete penetrance, favorable response to anticonvulsants
NewbornDx™Coverage: 100%
Familial platelet disorder
RUNX1
epistaxis, easy bruisability, thrombocytopenia, abnormal platelet aggregation, prolonged bleeding time, normal platelet size, risk of myeloid malignancy
NewbornDx™Coverage: 99%
Familial thrombotic thrombocytopenia purpura
ADAMTS13
neonatal jaundice, renal dysfunction, fluctuating neurological signs, fever, microangiopathic hemolytic anemia, thrombocytopenia microangiopathy
NewbornDx™Coverage: 98%
Familial visceral amyloidosis
FGA
prolonged bleeding from umbilical cord stump, nosebleeds, bleeding of gums, prolonged bleeding following minor trauma, spontaneous bleeding
NewbornDx™Coverage: 100%
Fanconi anemia
BRCA2
early-onset acute leukemia and solid tumors, multi-system malformations
NewbornDx™Coverage: 95%
BRIP1
progressive bone marrow failure with pancytopenia, risk of malignancy
NewbornDx™Coverage: 99%
ERCC4
short stature, microcephaly, biliary atresia, absent thumbs, esophageal atresia, bone marrow failure
NewbornDx™Coverage: 99%
FANCA
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 97%
FANCB
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 96%
FANCC
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 99%
FANCD2
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 98%
FANCE
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 91%
FANCF
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
FANCG
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
FANCI
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 99%
FANCL
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 91%
RAD51C
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
SLX4
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
UBE2T
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 89%
XRCC2
microcephaly, left facial nerve palsy, bilaterally absent thumbs, poor growth
NewbornDx™Coverage: 97%
Fanconi renotubular syndrome
HNF4A
short stature, increased birth weight, macrosomia, renal proximal tubule defect onset in childhood, nephrocalcinosis, rickets, neonatal hypoglycemia and hyperinsulinism
NewbornDx™Coverage: 100%
Fanconi syndrome
EHHADH
metabolic acidosis, hyperphosphaturia, hypercalciuria, aminoaciduria, glucosuria, and proteinuria, impaired growth, rickets
NewbornDx™Coverage: 100%
SLC34A1
rickets, osteopenia, marked hypercalciuria, generalized proximal tubulopathy, renal phosphate wasting
NewbornDx™Coverage: 100%
Fanconi-Bickel syndrome
SLC2A2
hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose
NewbornDx™Coverage: 100%
Fatal infantile cardioencephalomyopathy
COA5
hypertrophic cardiomyopathy
NewbornDx™Coverage: 100%
Fatty liver disease
MGAT1
may play a role in fatty liver disease
NewbornDx™Coverage: 100%
Fechtner syndrome
MYH9
bilateral SNHL of high frequency, mild bleeding episodes, renal involvement
NewbornDx™Coverage: 100%
Feingold syndrome
MYCN
microcephaly, digital anomalies, esophageal and duodenal atresias, learning disability/intellectual disability, micrognathia, short palpebral fissures, patent ductus arteriosus
NewbornDx™Coverage: 97%
Fetal akinesia deformation sequence
RAPSN
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 100%
FG syndrome
CASK
progressive microcephaly, short stature, hypoplasia of cerebellum and pons, severe intellectual disability, eye anoamlies, hypotonia, dysmorphic features
NewbornDx™Coverage: 92%
FLNA
congenital hypotonia, relative macrocephaly, dysmorphic facies, anal anomalies or severe constipation
NewbornDx™Coverage: 100%
Fibrochondrogenesis
COL11A1
severe skeletal abnormalities, hearing loss, vision loss, very narrow chest, respiratory failure
NewbornDx™Coverage: 97%
Fibrodysplasia ossificans progressiva
ACVR1
progressive ossification of skeletal muscle, fascia, tendons, and ligaments, great toe abnormalities.
NewbornDx™Coverage: 100%
Floating-Harbor syndrome
SRCAP
proportionate short stature, delayed bone age, delayed speech development, typical facial features
NewbornDx™Coverage: 100%
Focal dermal hypoplasia
PORCN
in utero lethality (males), atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, multiple papillomas of the mucous membranes or skin, syndactyly, polydactyly, camptodactyly, lip papillomas, hypoplastic teeth, ocular anomalies
NewbornDx™Coverage: 99%
Focal epilepsy, speech disorder, with or without mental retardation
GRIN2A
severe seizures, delayed psychomotor development
NewbornDx™Coverage: 100%
Focal facial dermal dysplasia
CYP26C1
congenital bilateral vesicular lesions between ear and corner of mouth
NewbornDx™Coverage: 97%
Forebrain defects
TDGF1
holoprosencephaly
NewbornDx™Coverage: 100%
Frank-ter Haar syndrome
SH3PXD2B
brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea, full cheeks, small chin, bowing of the long bones, flexion deformity of the fingers
NewbornDx™Coverage: 100%
Fraser syndrome
FRAS1
cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal malformation, genitourinary malformations, oral clefting
NewbornDx™Coverage: 100%
FREM2
cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal malformation, genitourinary malformations, oral clefting
NewbornDx™Coverage: 100%
GRIP1
syndactyly, cryptophthalmos, renal anomalies, laryngeal stenosis, external genitalia anormalies
NewbornDx™Coverage: 100%
Frontometaphyseal dysplasia
FLNA
congenital hypotonia, relative macrocephaly, dysmorphic facies, anal anomalies or severe constipation
NewbornDx™Coverage: 100%
Frontotemporal lobar degeneration with ubiquitin-positive inclusions
GRN
rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, cerebellar atrophy
NewbornDx™Coverage: 100%
Fructose 1,6 bisphosphatase deficiency
FBP1
hypoglycemia, lactic acidosis, hyperventilation, hepatomegaly
NewbornDx™Coverage: 100%
Fucosidosis
FUCA1
developmental delay, developmental regression, dysostosis multiplex, seizures, spasticity, angiokeratomas, coarse facies, hepatosplenomegaly
NewbornDx™Coverage: 99%
Fuhrmann syndrome
WNT7A
bowing of the femurs, aplasia or hypoplasia of the fibula, poly-/syn-/oligodactyly
NewbornDx™Coverage: 100%
Fukuyama congenital muscular dystrophy
FKRP
hypotonia, muscle weakness with contractures of the hips, knees, and interphalangeal joints, severe developmental delay, myopathic facial appearance, pseudohypertrophy of the calves and forearms
NewbornDx™Coverage: 100%
Fumarate hydrotase deficiency
FH
failure to thrive, developmental delay, hypotonia, cerebral atrophy, lactic and pyruvic acidemia, microcephaly
NewbornDx™Coverage: 100%
G
GABA-transaminase deficiency
ABAT
severe psychomotor retardation, refractory seizures, hypotonia, hyperreflexia, lethargy, high pitched cry, T2-hyperintensities in white matter, elevated free GABA in CSF
NewbornDx™Coverage: 100%
Galactokinase deficiency
GALK1
cataracts, increased plasma concentration of galactose, elevated urinary excretion of galactitol
NewbornDx™Coverage: 100%
Galactosemia
GALT
poor feeding, failure to thrive, hypoglycemia, hepatocellular damage, bleeding diathesis, jaundice
NewbornDx™Coverage: 100%
Galactosialidosis
CTSA
fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia
NewbornDx™Coverage: 100%
Galloway-Mowat syndrome
WDR73
microcephaly, central nervous system abnormalities resulting in severely delayed psychomotor development
NewbornDx™Coverage: 100%
GAPO syndrome
ANTXR1
growth retardation, alopecia, pseudoanodontia, optic atrophy
NewbornDx™Coverage: 98%
Gastrointestinal defects and immunodeficiency syndrome
TTC7A
multiple intestinal atresia
NewbornDx™Coverage: 97%
Gaucher disease
GBA
bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, absence of primary central nervous system disease
NewbornDx™Coverage: 100%
Gaze palsy, horizontal, with progressive scoliosis
ROBO3
horizontal gaze palsy, progressive external ophthalmoplegia, severe scoliosis
NewbornDx™Coverage: 99%
Geleophysic dysplasia
ADAMTSL2
severe short stature, short hands and feet, joint limitations, skin thickening
NewbornDx™Coverage: 100%
Generalized arterial calcification of infancy
ENPP1
internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation
NewbornDx™Coverage: 86%
Generalized congenital lipodystrophy
PTRF
muscular dystrophy, cardiac conduction anomalies
NewbornDx™Coverage: 100%
Generalized epilepsy and paroxysmal dyskinesia
KCNMA1
absence or generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia, involuntary dystonic or choreiform movements
NewbornDx™Coverage: 98%
Generalized thyrotropin-releasing hormone resistance
TRHR
central hypothyroidism, insufficient TSH secretion, low levels of thyroid hormones
NewbornDx™Coverage: 100%
Genitopatellar syndrome
KAT6B
genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability
NewbornDx™Coverage: 96%
Geroderma osteodysplasticum
GORAB
skin suggesting precocious aging, osteoporosis
NewbornDx™Coverage: 100%
Ghosal hematodiaphyseal syndrome
TBXAS1
diaphyseal dysplasia, refractory anemia
NewbornDx™Coverage: 100%
Glanzmann thrombasthenia
ITGA2B
failure of platelet aggregation, episodic mucocutaneous bleeding and unprovoked bruising, intracranial bleeding, petechiae, prolonged bleeding
NewbornDx™Coverage: 100%
ITGB3
failure of platelet aggregation, episodic mucocutaneous bleeding and unprovoked bruising, intracranial bleeding, petechiae, prolonged bleeding
NewbornDx™Coverage: 97%
Glass syndrome
SATB2
intellectual disability (variable severity), dysmorphic facial features, micrognathia, downslanting palpebral fissures, cleft palate, crowded teeth, seizures, joint laxity, arachnodactyly, happy demeanor
NewbornDx™Coverage: 100%
Glucocorticoid deficiency
MC2R
low or undetectable cortisol, grossly elevated ACTH levels, hypoglycemia, failure to thrive
NewbornDx™Coverage: 100%
MRAP
hyperpigmentation, recurrent hypoglycemic episodes, low to undetectable plasma cortisol, elevated plasma ACTH
NewbornDx™Coverage: 100%
NNT
failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, shock
NewbornDx™Coverage: 100%
Glucocorticoid resistance
NR3C1
increased plasma cortisol concentration, high urinary free cortisol
NewbornDx™Coverage: 100%
Glucose metabolism
ARRDC4
regulation of glucose
NewbornDx™Coverage: 99%
Glucose transporter deficiency
SLC2A1
epilepsy, developmental delay, intellectual disability, postnatal microcephaly, spasticity, ataxia, lethargy, myoclonus
NewbornDx™Coverage: 100%
Glucose-6-phosphate dehydrogenase deficiency
G6PD
chronic and drug-, food-, or infection-induced hemolytic anemia
NewbornDx™Coverage: 96%
Glutamate formiminotransferase deficiency
FTCD
intellectual disability, formiminoglutamic aciduria, hyperfolicacidemia, hypersegmentation of neutrophil nuclei
NewbornDx™Coverage: 93%
Glutaric acidemia, type I
GCDH
macrocephaly, failure to thrive, hypotonia, dystonia, rigidity, acute subdural hemorrhage
NewbornDx™Coverage: 100%
Glutaric acidemia, type II
ETFA
nonketotic hypoglycemia, metabolic acidosis, poor feeding, vomiting, hypotonia, macrocephaly, polycystic kidneys, hepatomegaly, facial dysmorphism, respiratory destress, genital anomalies
NewbornDx™Coverage: 99%
ETFB
nonketotic hypoglycemia, metabolic acidosis, poor feeding, vomiting, hypotonia, macrocephaly, polycystic kidneys, hepatomegaly, facial dysmorphism, respiratory destress, genital anomalies
NewbornDx™Coverage: 100%
ETFDH
nonketotic hypoglycemia, metabolic acidosis, poor feeding, vomiting, hypotonia, macrocephaly, polycystic kidneys, hepatomegaly, facial dysmorphism, respiratory destress, genital anomalies
NewbornDx™Coverage: 98%
Glutaric acidemia, type III
SUGCT
failure to thrive, hypertension, diarrhea, vomiting, glutaric aciduria
NewbornDx™Coverage: 91%
Glutathione synthetase deficiency
GSS
haemolytic anaemia, seizures, ataxia, spasticity
NewbornDx™Coverage: 100%
Glycine N-methyltransferase deficiency
GNMT
hepatomegaly, hypermethioninemia, elevated transaminases
NewbornDx™Coverage: 100%
Glycogen storage disease
AGL
hypoglycemia, hyperlipidemia, hepatomegaly, short stature
NewbornDx™Coverage: 96%
ALDOA
nonspherocytic hemolytic anemia, splenomegaly, jaundice, dysmorphic facial features
NewbornDx™Coverage: 100%
G6PC
severe hypoglycemia, hepatomegaly, lactic acidosis, fat cheeks, relatively thin extremities, short stature, protuberant abdomen
NewbornDx™Coverage: 100%
GAA
hypotonia, myopathy, hepatomegaly
NewbornDx™Coverage: 100%
GBE1
severe hypotonia, dilated cardiomyopathy, respiratory distress
NewbornDx™Coverage: 99%
GYG1
muscle weakness, cardiac arrhythmias
NewbornDx™Coverage: 100%
GYS1
left ventricular hypertrophy, left atrial enlargement, muscle fatigability
NewbornDx™Coverage: 100%
GYS2
arrhythmia, muscle weakness and pain following moderate activity, syncope, long QT, hypoglycemia
NewbornDx™Coverage: 98%
LDHA
myoglobinuria, erythematous squamous skin lesions, muscle pain and cramps, elevated CK, elevated serum lactate and pyruvate
NewbornDx™Coverage: 100%
PFKM
exercise intolerance, muscle cramping, exertional myopathy, compensated hemolysis, myoglobinuria
NewbornDx™Coverage: 100%
PHKA2
hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, hyperketosis
NewbornDx™Coverage: 96%
PHKG2
hepatomegaly, glycogen storage in liver, splenomegaly, hypotonia, mild motor delay, lactic acidosis, fasting hypoglycemia
NewbornDx™Coverage: 100%
PRKAG2
macroglossia, cardiomegaly, neonatal hypoglycemia, short PR interval, persistent bradycardia, vacuolar myopathy, glycogen in muscle, renomegaly, pulmonary edema, ascites
NewbornDx™Coverage: 90%
PYGL
hypoglycemia, hepatomegaly, growth retardation in childhood, increased liver glycogen content, no lactic acidosis
NewbornDx™Coverage: 100%
SLC37A4
hypoglycemic, hepatomegaly, lactic acidosis, seizures, anemia, renomegaly, short stature, thin extremities, doll-like face, protuberant abdomen, xanthoma, neutropenia, recurrent bacterial infections, oral and intestinal mucosal ulcers
NewbornDx™Coverage: 100%
Glycosylphosphatidylinositol deficiency
PIGM
intellectual disability, other congenital malformations, seizures, dysmorphic facial features
NewbornDx™Coverage: 100%
GM2-gangliosidosis
GM2A
roving eye movements, cherry-red spots, hypotonia, seizures, hyperreflexia, abnormal movements, cerebral atrophy
NewbornDx™Coverage: 100%
Goldberg-Shprintzen megacolon syndrome
KIAA1279
Hirschsprung disease, microcephaly, hypertelorism, submucous cleft palate, short stature, gyral abnormalities of the brain, facial dysmorphism
NewbornDx™Coverage: 0%
Gray platelet syndrome
NBEAL2
mild-to-moderate bleeding tendency, moderate thrombocytopenia
NewbornDx™Coverage: 99%
Greenberg skeletal dysplasia
LBR
fetal hydrops, shortening of all long bones, platyspondyly, disorganization of chondroosseous calcification, ectopic ossification centers
NewbornDx™Coverage: 98%
Griscelli syndrome
MYO5A
delayed development, intellectual disability, seizures, hypotonia, eye and vision abnormalities
NewbornDx™Coverage: 97%
RAB27A
skin hypopigmentation, silver-gray hair, seizures, cerebellar signs, spasticity, hemophagocytic syndrome, acute onset of uncontrolled T-lymphocyte and macrophage activation, frequent pyogenic infections, multi-organ failure due to hemophagocytic syndrome, childhood death
NewbornDx™Coverage: 100%
Growth retardation with deafness and mental retardation due to IGF1 deficiency
IGF1
short stature, low birth weight, poor growth, microcephaly, micrognathia, sensorineural hearing loss, ptosis, delayed bone age, osteopenia, clinodactyly, motor delay, intellectual disability, hyperactivity
NewbornDx™Coverage: 100%
Growth retardation, developmental delay, facial dysmorphism
FTO
failure to thrive, developmental delay, microcephaly, lissencephaly, seizures, or Dandy-Walker malformation
NewbornDx™Coverage: 100%
GTP cyclohydrolase 1-deficient dopa-responsive dystonia
GCH1
poor feeding, swallowing difficulties, hypotonia, hyperphenylalaninemia, seizures, abnormal ocular movements, irritability, lethargy, rigidity
NewbornDx™Coverage: 94%
Guanidinoacetate methyltransferase deficiency
GAMT
hypotonia, intractable seizures, development delay/regression, ataxia, absent or limited speech, increased muscle in lower limbs, extremely low creatine excretion, low CSF creatine and creatinine, myoclonic jerks, extrapyramidal dysfunction
NewbornDx™Coverage: 96%
H
Hajdu-Cheney syndrome
NOTCH2
bile duct paucity, cardiac defect, butterfly vertebrae, posterior embryotoxon, facial dysmorphism
NewbornDx™Coverage: 100%
Harderoporphyria
CPOX
neonatal hemolytic anemia, massive excretion of harderoporphyrin in feces
NewbornDx™Coverage: 100%
HARP syndrome
PANK2
progressive dystonia, basal ganglia iron deposition, dysarthria, rigidity, pigmentary retinopathy
NewbornDx™Coverage: 100%
Hartsfield Syndrome
FGFR1
holoprosencephaly, ectrodactyly, cleft/lip palate
NewbornDx™Coverage: 100%
Hawkinsinuria
HPD
mild mental retardation, normal liver function, seizures, intermittent ataxia
NewbornDx™Coverage: 100%
Hay-Wells syndrome
TP63
limb anomalies (hand/foot malformations as split hand or split foot, cutaneous syndactyly), ectodermal dysplasia, absence or small mammary glands
NewbornDx™Coverage: 100%
Helsmoortel-van der aa syndrome
ADNP
intellectual disability, hypotonia, multiple cyanotic episodes, dysmorphic facial features
NewbornDx™Coverage: 100%
Hemolytic anemia
CD59
polyneuropathy, hypotonia, limb muscle weakness, hyporeflexia
NewbornDx™Coverage: 100%
TPI1
congenital hemolytic anemia, respiratory distress
NewbornDx™Coverage: 100%
Hemophilia
F8
frequent spontaneous joint or deep muscle bleeds, prolonged bleeding after relatively minor trauma
NewbornDx™Coverage: 99%
F9
frequent spontaneous joint or deep muscle bleeds, prolonged bleeding after relatively minor trauma
NewbornDx™Coverage: 88%
Hennekam lymphangiectasia-lymphedema syndrome
FAT4
generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs, facial dysmorphism, cognitive impairment
NewbornDx™Coverage: 100%
Hepatic bile acid conjugation
SLC27A5
neonatal cholestasis, liver disease
NewbornDx™Coverage: 100%
Hereditary angioedema
SERPING1
recurrent episodes of severe swelling of the limbs, face, intestinal tract, and airway
NewbornDx™Coverage: 100%
Hereditary antithrombin deficiency
SERPINC1
deep vein thrombosis, pulmonary embolism
NewbornDx™Coverage: 100%
Hereditary C1 esterase inhibitor deficiency
SERPING1
recurrent episodes of severe swelling of the limbs, face, intestinal tract, and airway
NewbornDx™Coverage: 100%
Hereditary folate malabsorption
SLC46A1
failure to thrive, megaloblastic anemia, diarrhea, developmental delay, seizures, ataxia, thrombocytopenia, leukopenia, low erythrocyte folate concentration, low CSF folate
NewbornDx™Coverage: 100%
Hereditary fructose intolerance
ALDOB
hypoglycemia, failure to thrive, hepatomegaly, cirrhosis, diarrhea, vomiting, seizures, lactic acidosis, proximal renal tubulopathy, nausea
NewbornDx™Coverage: 100%
Hereditary hemorrhagic telangiectasia
ACVRL1
vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera
NewbornDx™Coverage: 100%
ENG
arteriovenous malformations of skin, mucosa, and viscera
NewbornDx™Coverage: 100%
Hereditary hyperekplexia
GLRA1
exaggerated startle response to sudden, brief episodes of intense, generalized hypertonia in response to stimulation, risk for sudden death from apnea or aspiration, inguinal hernias
NewbornDx™Coverage: 100%
GLRB
hyperekplexia, normal to slight motor delay, normal intelligence, exaggerated startle response, stiffness at birth which can lessen with age
NewbornDx™Coverage: 89%
Hereditary lymphadema
PIEZO1
hemolytic anemia, perinatal edema, increased reticulocyte count
NewbornDx™Coverage: 100%
Hereditary lymphedema
FLT4
chronic swelling of body parts, nail dysplasia
NewbornDx™Coverage: 98%
VEGFC
upslanting and dysplastic toenails, deep toes creases, papillomas over the affected area, cellulitis, lymphedema of the feet and ankles
NewbornDx™Coverage: 98%
Hereditary myopathy with lactic acidosis
ISCU
progressive and severe muscle weakness and muscle wasting, exercise intolerance, lactic acidosis
NewbornDx™Coverage: 100%
PNPLA8
myopathy, normal early development, severe progressive proximal muscle weakness resulting in loss of ambulation, complex partial seizures, lactic acidosis, increased serum pyruvate, hypotonicity progressed to spasticity
NewbornDx™Coverage: 98%
Hereditary neutrophilia
CSF3R
recurrent infections, peripheral neutropenia
NewbornDx™Coverage: 100%
Hereditary pancreatitis
CTRC
pancreatic insufficiency, hemorrhagic pleural effusion, portal or splenic vein thrombosis, diabetes mellitus
NewbornDx™Coverage: 100%
Hereditary persistence of fetal hemoglobin
KLF1
short stature, hepatmegaly, splenomegaly, ineffective erythropoiesis, anemia, increased fetal hemoglobin, hyperbilirubinemia
NewbornDx™Coverage: 99%
Hereditary sensory and autonomic neuropathy
NGF
congenital insensitivity to pain, kin blotching, decreased sweating, episodic increased body temperature
NewbornDx™Coverage: 100%
SCN11A
intense episodic pain (mainly distal lower extremities), episodes dimish with age
NewbornDx™Coverage: 99%
SPTLC1
peripheral neuropathy
NewbornDx™Coverage: 99%
WNK1
impaired sensation in distal extremities, hyporeflexia, hypotonia, areflexia, joint degeneration, GE reflux, acroosteolysis, impaired corneal reflex
NewbornDx™Coverage: 100%
Hereditary sensory neuropathy, spastic paraplegia
CCT5
neuropathy, limb spasticity, hyperreflexia
NewbornDx™Coverage: 100%
Hermansky-Pudlak syndrome
AP3B1
decreased pigment, decreased vision, nystagmus, bleeding diathesis resulting from platelet storage pool deficiency
NewbornDx™Coverage: 93%
BLOC1S6
decreased pigment, decreased vision, nystagmus, bleeding diathesis resulting from platelet storage pool deficiency
NewbornDx™Coverage: 90%
Heterotaxy syndrome
ACVR2B
randomization of the placement of visceral organs
NewbornDx™Coverage: 96%
CRELD1
partial atrioventricular septal defect, dextrocardia, pulmonary atresia, right aortic arch, aorta arises from right ventricle
NewbornDx™Coverage: 100%
NODAL
randomization of placement of visceral organs, including the heart, lungs, liver, spleen, and stomach
NewbornDx™Coverage: 100%
ZIC3
structural cardiac defects
NewbornDx™Coverage: 100%
Hexosaminidase A deficiency
HEXA
exaggerated startle reaction to loud noises, hypotonia, seizures, cherry red spot, intellectual disability, vision loss and hearing loss, developmental regression
NewbornDx™Coverage: 100%
Histidinemia
HAL
increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells
NewbornDx™Coverage: 99%
Histiocytosis-lymphadenopathy plus syndrome
SLC29A3
histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, deafness
NewbornDx™Coverage: 99%
Holocarboxylase synthetase deficiency
HLCS
breathing difficulties (hyperventilation, tachypnea), feeding problems, alopecia, skin rash, hypotonia, irritability, seizures, lethargy, developmental delay, thrombocytopenia
NewbornDx™Coverage: 100%
Holoprosencephaly
CDON
holoprosencephaly, agenesis of the corpus callosum, globabl development delay, proptosis, hypotelorism, cleft lip and palate
NewbornDx™Coverage: 100%
DISP1
holoprosencephaly-like microform
NewbornDx™Coverage: 100%
GLI2
hypopituitarism, growth hormone deficiency, and/or postaxial polydactyly
NewbornDx™Coverage: 99%
SHH
hydronephrosis, cyclopia, ocular hypotelorism, single brain ventricle midface hypoplasia, holoprosencephaly
NewbornDx™Coverage: 100%
SIX3
monoventricle, fused ventricles, microcephaly, seizures, global developmental delay, ocular hypotelorism, central incisor, facial dysmorphism
NewbornDx™Coverage: 100%
TGIF1
structural malformation of forebrain
NewbornDx™Coverage: 100%
ZIC2
tall, broad forehead, upslanting palpebral fissures, large ears, intellectual disability, facial dysmorphism
NewbornDx™Coverage: 93%
Holt-Oram syndrome
SALL4
radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), ocular coloboma, Duane anomaly, SNHL
NewbornDx™Coverage: 100%
TBX5
upper-extremity malformations, congenital heart malformation
NewbornDx™Coverage: 100%
Homocystinuria
CBS
myopia, lens dislocation, skeletal anomalies, increased urinary homocystine and methionine, inguinal hernia, brittle hair, mitral valve prolapse
NewbornDx™Coverage: 100%
MTHFR
microcephaly, muscle weakness, developmental delay, seizures, stroke, gait abnormalities, incoordination
NewbornDx™Coverage: 100%
Homocystinuria-megaloblastic anemia
MTR
failure to thrive, hypotonia, seizures, megaloblastic anemia, delayed psychomotor development
NewbornDx™Coverage: 99%
MTRR
failure to thrive, hypotonia, developmental delay, seizures, abnormal gait, megaloblastic anemia
NewbornDx™Coverage: 100%
Hydrocephalus
L1CAM
severe hydrocephalus, adducted thumbs,spasticity, severe, intellectual disability
NewbornDx™Coverage: 100%
Hydrolethalus syndrome
HYLS1
micrognathia, prenatal onset hydrocephalus, structural brain malformations, dysplastic adrenal glands, 'key hole-shaped' deformity of base of skull, pre or post-axial polydactyly, heart defect (VSD, ASD), malformed ears
NewbornDx™Coverage: 100%
Hyper-IgE syndrome
DOCK8
recurrent Staphylococcus aureus skin abscesses, increased serum IgE
NewbornDx™Coverage: 99%
STAT3
insulin-dependent diabetes mellitus autoimmune enteropathy, celiac disease, autoimmune hematologic disorders, short stature, nonspecific dermatitis, hypothyroidism, delayed puberty
NewbornDx™Coverage: 100%
Hyperammonemia
ALDH18A1
loose, hyperextensible skin with decreased resilience and elasticity
NewbornDx™Coverage: 100%
Hypercalcemia
CYP24A1
failure to thrive, dehydration, hypotonia, medullary nephrocalcinosis
NewbornDx™Coverage: 100%
Hyperchlorhidrosis
CA12
excessive salt wasting in sweat, hyponatremic dehydration, hyperkalemia
NewbornDx™Coverage: 100%
Hyperekplexia
SLC6A5
neonatal hypertonia, exaggerated startle response to tactile or acoustic stimuli, life-threatening neonatal apnea episodes
NewbornDx™Coverage: 100%
Hypereosinophilic syndrome
PDGFRA
overproduction of eosinophils in the bone marrow, eosinophilia, tissue infiltration, organ damage
NewbornDx™Coverage: 100%
Hypergonadotropic hypogonadism
LHCGR
46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, absent development of secondary male sex characteristics
NewbornDx™Coverage: 92%
Hyperinsulinemic hypoglycemia
INSR
hypoglycemic seizures, hyperinsulinemia hypoglycemia, fasting hyperinsulinemia
NewbornDx™Coverage: 98%
Hyperinsulinism-hyperammonemia syndrome
GLUD1
hyperinsulinemic hypoglycemia, hyperammonemia, seizures, asymptomatic
NewbornDx™Coverage: 96%
Hyperkalemic periodic paralysis
SCN4A
weakness of skeletal muscle, respiratory insufficiency with sudden apnea and cyanosis, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis, arthrogryposis multiplex congenita
NewbornDx™Coverage: 100%
Hyperlipoproteinemia
APOC2
hypertriglyceridemia, hepatomegaly, splenomegaly, eruptive xanthomas
NewbornDx™Coverage: 100%
Hyperlysinemia
AASS
seizures, hypotonia, or mildly delayed psychomotor development, elevated plasma lysine and pipecolic acid, decreased plasma and urinary ornithine
NewbornDx™Coverage: 99%
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
AHCY
failure to thrive, developmental delay, intellectual disability, facial dysmorphism, myocardiopathy, hypermethioninemia, breath, sweat, or urine may have a smell resembling boiled cabbage
NewbornDx™Coverage: 100%
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A15
failure to thrive, liver dysfunction, hepatomegaly, episodic vomiting, hypotonia, lethagry, global development delay, intellectual disability (variable), seizures (myoclonic), hyperreflexia, cortical atrophy, buccolingofacial dyspraxia, hyperornithemia, hyperammonemia, homocitrullinuria
NewbornDx™Coverage: 100%
Hyperparathyroidism
CASR
pancreatitis, hypocalciuria, hypercalcemia
NewbornDx™Coverage: 100%
Hyperphosphatasia with mental retardation syndrome
PGAP3
development delay, generalized, myoclonic seizures, lack of speech, facial dysmorphism
NewbornDx™Coverage: 100%
PIGV
intellectual disability with facial dysmorphism, seizures, consistently elevated serum alkaline phosphatase (AP) (hyperphosphatasia), brachytelephalangy
NewbornDx™Coverage: 100%
Hyperproinsulinemia
INS
hyperinsulinemia, hyperglycemia, normal response to exogenously administered insulin
NewbornDx™Coverage: 100%
Hyperprolinemia
ALDH4A1
mental retardation, recurrent seizures, hyperprolinemia, aminoaciduria, prolinuria, glycinuria, delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine, delta-1-pyrroline-5-carboxylate (P5C) levels increased in plasma
NewbornDx™Coverage: 99%
PRODH
relatively benign condition (most cases), severe condition with seizures and mental retardation has been reported, elevated plasma and urinary proline
NewbornDx™Coverage: 93%
Hypertriglyceridemia
GPD1
moderate to severe transient hypertriglyceridemia in infancy, hepatomegaly, persistent fatty liver, hepatic fibrosis
NewbornDx™Coverage: 100%
Hypertrophic cardiomyopathy
MYH6
hypertrophic cardiomyopathy, atrial septal defect (ASD)
NewbornDx™Coverage: 100%
MYH7
muscle weakness, dilated cardiomyopathy
NewbornDx™Coverage: 100%
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SARS2
progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, delayed development
NewbornDx™Coverage: 100%
Hypocalcemia
GNA11
generally asymptomatic, hypocalcemia, muscle cramps
NewbornDx™Coverage: 100%
Hypocalciuric hypercalcemia, type I
CASR
pancreatitis, hypocalciuria, hypercalcemia
NewbornDx™Coverage: 100%
Hypogonadotropic hypogonadism
FGF8
absent or incomplete sexual maturation by the age of 18 years, low levels of circulating gonadotropins and testosterone
NewbornDx™Coverage: 90%
KISS1
absent or incomplete sexual maturation by the age of 18 years, low levels of circulating gonadotropins and testosterone (no other abnormalities of the hypothalamic-pituitary axis), anosmia, cleft palate, sensorineural hearing loss
NewbornDx™Coverage: 100%
KISS1R
absent or incomplete sexual maturation by the age of 18 years, low levels of circulating gonadotropins and testosterone (no other abnormalities of the hypothalamic-pituitary axis), anosmia, cleft palate, sensorineural hearing loss
NewbornDx™Coverage: 100%
NSMF
absent or incomplete sexual maturation by age of 18 years, low levels of circulating gonadotropins and testosterone
NewbornDx™Coverage: 97%
PROKR2
absent or incomplete sexual maturation by the age of 18 years, low levels of circulating gonadotropins and testosterone, anosmia, cleft palate, sensorineural hearing loss
NewbornDx™Coverage: 100%
TAC3
absent or incomplete sexual maturation, low levels of circulating gonadotropins and testosterone, anosmia, cleft palate, sensorineural hearing loss
NewbornDx™Coverage: 100%
TACR3
absent or incomplete sexual maturation by the age of 18 years, low levels of circulating gonadotropins and testosterone, anosmia, cleft palate, sensorineural hearing loss
NewbornDx™Coverage: 100%
Hypoinsulinemic hypoglycemia with hemihypertrophy
AKT2
neonatal macrosomia, left-sided hemihypertrophy, gynecomastia, truncal obesity, hypoglycemia seizures, hypoinsulinemic hypoglycemia, low serum ketone bodies, low serum branched-chain amino acids
NewbornDx™Coverage: 100%
Hypokalemic periodic paralysis
CACNA1S
episodic weakness accompanied by low serum potassium levels
NewbornDx™Coverage: 100%
Hypomagnesemia
CLDN19
nephrocalcinosis with idiopathic hypercalciuria, bilateral chorioretinal 'scars' in the macula, nystagmus, myopia
NewbornDx™Coverage: 100%
CNNM2
low serum magnesium, delayed psychomotor development, moderate mental retardation
NewbornDx™Coverage: 100%
TRPM6
muscle spasms, tetany
NewbornDx™Coverage: 98%
Hypomyelinating leukodystrophy
AIMP1
lack of development, lack of speech acquisition, peripheral spasticity, decreased myelination
NewbornDx™Coverage: 87%
FAM126A
congenital cataracts, progressive scoliosis, weakness and wasting of muscles in lower limbs, developmental delay, truncal hypotonia, hyperreflexia, white matter atrophy, peripheral neuropathy
NewbornDx™Coverage: 94%
GJC2
nystagmus, truncal hypotonia with hypertonia, global developmental delay, diffuse cerebral hypomyelination
NewbornDx™Coverage: 97%
HSPD1
hypotonia, nystagmus, profound psychomotor developmental delay, apneic episodes, hypotonia, hyperreflexia, abnormal myelination, joint contractures
NewbornDx™Coverage: 95%
POLR1C
delayed psychomotor development, loss or lack of independent ambulation, abnormal cognition, tremor, ataxia, spasticity, hypomyelination, thin corpus callosum
NewbornDx™Coverage: 95%
POLR3A
progressive ataxia, mild-to-moderate brain hypomyelination, cerebellar atrophy, delayed dentition, delayed motor development, tremors, hypodontia or oligodontia, hypogonadotropic hypogonadism (some cases)
NewbornDx™Coverage: 100%
POLR3B
childhood-onset hypomyelinating leukodystrophy, normal early infantile development, ataxia, oligodontia and/or hypogonadotropic hypogonadism
NewbornDx™Coverage: 98%
PYCR2
progressive postnatal microcephaly, hypomyelination, severely delayed psychomotor development, poor growth, truncal hypotonia, appendicular hypertonia, hyperreflexia, severe muscle wasting
NewbornDx™Coverage: 100%
TUBB4A
delayed motor development, gait instability, dystonia, choreoathetosis, rigidity, hypomyelination, cerebellar atrophy, atrophy or disappearance of the putamen
NewbornDx™Coverage: 94%
VPS11
developmental delay, hypomyelination on brain imaging, truncal hypotonia, contractures, limited or no speech
NewbornDx™Coverage: 100%
Hypomyelination with brainstem, spinal cord involvement, leg spasticity
DARS
severe spasticity of lower limbs, hypotonia, delayed motor development, nystagmus, hypomyelination and white matter lesions
NewbornDx™Coverage: 91%
Hypoparathyroidism, sensorineural deafness, and renal Disease
GATA3
sensorineural hearing loss, renal dysplasia, nephrosis, progressive renal failure, hypoparathyroidism
NewbornDx™Coverage: 100%
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
congenital hypoparathyroidism, severe growth retardation, developmental delay, microcephaly, facial and dental anomalies, small hands and feet, dysmorphic facial features
NewbornDx™Coverage: 100%
Hypophosphatasia
ALPL
prenatal long-bone bowing, infantile rickets without elevaed ALK, failure to thrive, craniosynostosis, blue sclerae, hypercalcemia, hypercalciuria, fractures
NewbornDx™Coverage: 100%
Hypophosphatasia mental retardation syndrome
PIGO
intellectual disability with facial dysmorphism, seizures, consistently elevated serum alkaline phosphatase (AP) (hyperphosphatasia)
NewbornDx™Coverage: 100%
Hypophosphatemic nephrolithiasis/osteoporosis
SLC34A1
rickets, osteopenia, marked hypercalciuria, generalized proximal tubulopathy, renal phosphate wasting
NewbornDx™Coverage: 100%
Hypophosphatemic rickets
CLCN5
low molecular weight proteinuria, hypercalciuria, chronic kidney disease
NewbornDx™Coverage: 99%
PHEX
rickets with bone deformities, short stature, dental anomalies, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, increased activity of serum alkaline phosphatases
NewbornDx™Coverage: 98%
SLC34A3
hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, bone pain
NewbornDx™Coverage: 100%
Hypoplastic left heart syndrome
GJA1
congestive cardiac failure, atrioventricular canal defect
NewbornDx™Coverage: 100%
Hypothyroidism, central, and testicular enlargement
IGSF1
central hypothyroidism, normal testicular volume in childhood, delayed growth spurt, overweight, decreased serum prolactin
NewbornDx™Coverage: 100%
Hypotonia-cystinuria syndrome
PREPL
generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain (late childhood)
NewbornDx™Coverage: 99%
Hypotrichosis with juvenile macular dystrophy
CDH3
alopecia of the scalp, macular dystrophy
NewbornDx™Coverage: 100%
Hypotrichosis-lymphedema-telangiectasia syndrome
SOX18
absent eyebrows, eyelashes, eyelid edema, hydrocele, scotal edema, lower limb lymphedema, hypotrichosis
NewbornDx™Coverage: 80%
I
I2-mannosidosis
MANBA
developmental delay, mental retardation, hypotonia, hearing loss, tortuosity of conjunctival vessels, recurrent infections
NewbornDx™Coverage: 99%
Ichthyosis
ELOVL4
collodion membrane, dry ichthyotic skin, profound developmental delay, refractory seizures, hypertonia, normal hair and nails
NewbornDx™Coverage: 100%
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CLDN1
scalp hypotrichosis, scarring alopecia, leukocyte vacuolization, absent hair, eyelashes, eyebrows
NewbornDx™Coverage: 100%
Idiopathic infantile hypercalcemia
SLC34A1
rickets, osteopenia, marked hypercalciuria, generalized proximal tubulopathy, renal phosphate wasting
NewbornDx™Coverage: 100%
Immunodeficiency
CARD11
recurrent respiratory infections, normal number of T and B cells, hypogammaglobulinemia
NewbornDx™Coverage: 99%
CD247
erythroderma, protracted diarrhea, pulmonary abscesses, recurrent infections, low T-cell count
NewbornDx™Coverage: 100%
IKBKB
risk of recurrent infections
NewbornDx™Coverage: 98%
IL21R
failure to thrive, recurrent infections, diarrhea, liver failure, fibrosis, cirrhosis, increased IgM and IgE
NewbornDx™Coverage: 100%
IRF8
failure to thrive, oral candidiasis, recurrent infections (susceptibility to mycobacterial infection after BCG immunization), lack of circulating monocytes and dendritic cells
NewbornDx™Coverage: 100%
LAMTOR2
short stature, hypopigmented skin, coarse facial features, recurrent bronchopulmonary infections due to Streptococcus pneumoniae, low peripheral neutrophil counts
NewbornDx™Coverage: 100%
LCK
diarrhea, oral candidiasis, failure to thrive
NewbornDx™Coverage: 100%
LRBA
recurrent infections, idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia
NewbornDx™Coverage: 98%
PIK3CD
recurrent respiratory infections, hypogammaglobulinemia
NewbornDx™Coverage: 100%
PIK3R1
recurrent respiratory infections, hypogammaglobulinemia
NewbornDx™Coverage: 94%
PNP
failure to thrive, recurrent respiratory infections, ear infections, atrophic tonsils, splenomegaly, hypertonia and hypotonia, varying degree of mental retardation, autoimmune hemolytic anemia, low serum and urine uric acid
NewbornDx™Coverage: 100%
STAT1
chronic mucocutaneous candidiasis during infancy or childhood, recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, autoimmune disorders (hypothyroidism or diabetes mellitus)
NewbornDx™Coverage: 95%
TRAC
recurrent respiratory infections, diarrhea, failure to thrive, lymphadenopathy, hepatosplenomegaly, hypereosinophilia
NewbornDx™Coverage: 100%
Immunodeficiency-centromeric instability-facial anomalies syndrome
DNMT3B
recurrent pulmonary infections, developmental delay, dysmorphic facial features
NewbornDx™Coverage: 100%
ZBTB24
poor growth, facial dysmorphism, recurrent infections, mental retardation, delayed motor developmental normal absolute B cells, hypogammaglobulinemia, death due to infections
NewbornDx™Coverage: 100%
Immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3
diarrhea, type 1 diabetes mellitus, dermatitis
NewbornDx™Coverage: 98%
Inclusion body myopathy and Nonaka myopathy
GNE
proximal and distal muscle weakness and wasting of the upper and lower limbs
NewbornDx™Coverage: 100%
Incontinentia Pigmenti
IKBKG
erythema followed by blisters on body except the face (stage 1), verrucous lesions that respect Blaschkos lines occurring mainly on the limbs (stage 2)
NewbornDx™Coverage: 0%
Infantile capillary hemangioma
ANTXR1
growth retardation, alopecia, pseudoanodontia, optic atrophy
NewbornDx™Coverage: 98%
Infantile cerebellar-retinal degeneration
ACO2
hypotonia, seizures, intellectual disability, retinopathy, failure to thrive, progressive cerebellar, cortical atrophy, hyporeflexia, optic atrophy
NewbornDx™Coverage: 100%
Infantile hypotonia, psychomotor retardation, characteristic facies
NALCN
severe contractures of limbs, dysmorphism, hypotonia, developmental delay
NewbornDx™Coverage: 98%
Infantile liver failure syndrome
LARS
infantile hepatopathy, acute liver failure, failure to thrive, developmental delay
NewbornDx™Coverage: 95%
Infantile parkinsonism-dystonia
SLC6A3
hyperkinesia with orolingual and limb dyskinesia, dystonia, chorea
NewbornDx™Coverage: 100%
Infantile refsum disease
PEX12
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX5
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
Infantile striatonigral degeneration
NUP62
choreoathetosis, abnormal eye movements, seizures, mental retardation, symmetrical degeneration of the caudate nucleus and putamen
NewbornDx™Coverage: 100%
Infantile transient liver failure
TRMU
elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia
NewbornDx™Coverage: 99%
Infantile-onset multisystem autoimmune disease
STAT3
insulin-dependent diabetes mellitus autoimmune enteropathy, celiac disease, autoimmune hematologic disorders, short stature, nonspecific dermatitis, hypothyroidism, delayed puberty
NewbornDx™Coverage: 100%
ZAP70
inflammatory colitis, skin blistering, bullous pemphigoid, autoimmune hypothyroidism, autoantibody production
NewbornDx™Coverage: 100%
Intellectual disability, microcephaly, pontine and cerebellar hypoplasia
CASK
progressive microcephaly, short stature, hypoplasia of cerebellum and pons, severe intellectual disability, eye anoamlies, hypotonia, dysmorphic features
NewbornDx™Coverage: 92%
Interleukin 2 receptor alpha chain deficiency
IL2RA
recurrent viral, fungal, and bacterial infections, lymphadenopathy, autoimmune enteropathy and eczematous skin lesions, chronic diarrhea, hepatomegaly, splenomegaly
NewbornDx™Coverage: 100%
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa
ITGA3
microcephaly, renal failure, fragile skin, blistering of skin, dystrophic nails, sparse and fine hair, interstitial lung disease, respiratory distress
NewbornDx™Coverage: 100%
Intestinal carcinoid tumors
SDHD
progressive encephalomyopathy with dementia, myoclonic seizures, short stature, complete external ophthalmoplegia, pigmentary retinopathy, ataxia
NewbornDx™Coverage: 80%
IRAK4 deficiency
IRAK4
recurrent infections, gram-positive Streptococcus pneumoniae and Staphylococcus aureus
NewbornDx™Coverage: 92%
Isobutyryl-CoA dehydrogenase deficiency
ACAD8
dilated cardiomyopathy, anemia, hypotonia, mild developmental delay, elevated C4-acylcarnitine
NewbornDx™Coverage: 100%
Isolated giant platelet disorder
GP1BB
moderate bleeding tendency, easy bruising, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 83%
Isolated persistent hypermethioninemia
MAT1A
asymptomatic, rarely causes intellectual disability, demyelination, dystonia, hyperreflexia, elevated serum methionine
NewbornDx™Coverage: 100%
Isovaleric acidemia
IVD
lethargy, vomiting, seizures, sweaty feet smell, aversion to protein/poor feeding, dehydration
NewbornDx™Coverage: 100%
J
Jervell and Lange-Nielsen syndrome
KCNE1
abnormal cardiac ventricular repolarization with prolonged QT interval, bilateral congenital hearing loss
NewbornDx™Coverage: 100%
KCNQ1
congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, high risk of sudden death
NewbornDx™Coverage: 90%
Johanson-Blizzard syndrome
UBR1
poor growth, mental retardation, aplasia or hypoplasia of the nasal alae, abnormal hair patterns, oligodontia
NewbornDx™Coverage: 94%
Joubert sydnrome
CC2D2A
cerebellar and brain stem malformation, hypotonia, developmental delay, cystic kidney disease, retinal dystrophy, congenital hepatic fibrosis
NewbornDx™Coverage: 94%
Joubert syndrome
AHI1
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal dystrophy, cystic renal disease
NewbornDx™Coverage: 96%
ARL13B
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 93%
C5orf42
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 98%
CEP290
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 85%
CEP41
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 91%
CSPP1
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 86%
INPP5E
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
KIF7
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 97%
NPHP1
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 97%
NPHP4
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
PDE6D
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
RPGRIP1L
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 94%
TCTN1
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 93%
TCTN2
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 96%
TCTN3
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TMEM138
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TMEM216
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TMEM231
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TMEM237
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 94%
Juvenile polyposis
SMAD4
mental retardation, dysmorphic facial features, microcephaly, blepharophimosis, short stature, iliac hypoplasia, brachydactyly, flattened vertebrae, thickened calvaria
NewbornDx™Coverage: 100%
K
Kabuki syndrome
KDM6A
elongated palpebral fissures with eversion of the lateral third of the lower eyelid, spinal column abnormalities (sagittal cleft vertebrae, butterfly vertebrae, narrow intervertebral disc space, and/or scoliosis), dermatoglyphic abnormalities, mild-to-moderate intellectual disability, postnatal growth deficiency
NewbornDx™Coverage: 95%
KMT2D
elongated palpebral fissures with eversion of the lateral third of the lower eyelid, spinal column abnormalities (sagittal cleft vertebrae, butterfly vertebrae, narrow intervertebral disc space, and/or scoliosis), dermatoglyphic abnormalities, mild-to-moderate intellectual disability
NewbornDx™Coverage: 99%
Kahrizi syndrome
SRD5A3
congenital eye malformations, nystagmus, hypotonia, developmental delay/intellectual disability, cerebellar ataxia
NewbornDx™Coverage: 100%
Kaufman oculocerebrofacial syndrome
UBE3B
intrauterine and postnatal growth retardation, microcephaly with mental retardation facial dysmorphism, congenital hypotonia, micrognathia, neonatal respiratory distress
NewbornDx™Coverage: 98%
KBG syndrome
ANKRD11
macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, global developmental delay, seizures
NewbornDx™Coverage: 100%
Kenny-Caffey syndrome
TBCE
congenital hypoparathyroidism, severe growth retardation, developmental delay, microcephaly, facial and dental anomalies, small hands and feet, dysmorphic facial features
NewbornDx™Coverage: 100%
Keratitis-ichthyosis-deafness syndrome
GJB2
sensorineural hearing loss, hyperkeratotic skin lesions, susceptibility to mucocutaneous infections
NewbornDx™Coverage: 100%
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
POMP
congential moderate nonblistering ichthyosis, linear hyperkeratosis without evidence of Koebner phenomenon, condition improved on oral etretinate therapy
NewbornDx™Coverage: 94%
Keutel syndrome
MGP
multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, abnormal cartilage ossification or calcification
NewbornDx™Coverage: 89%
Kindler syndrome
FERMT1
congenital blistering, skin atrophy, photosensitivity, skin fragility, scaling
NewbornDx™Coverage: 98%
King-Denborough syndrome
RYR1
mild congenital myopathy, motor developmental delay, mild proximal weakness most pronounced in the hip girdle musculature, risk of malignant hyperthermia, neonatal hypotonia, generalized muscle weakness and amyotrophy, fetal akinesia, arthrogryposis, lung hypoplasia, hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, rhabdomyolysis due to anesthesia
NewbornDx™Coverage: 97%
Kleefstra syndrome
EHMT1
severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, macroglossia, conotruncal heart defects
NewbornDx™Coverage: 99%
Klippel-Feil syndrome
GDF3
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
GDF6
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
MEOX1
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
MYO18B
severe hypotonia infancy, short stature, microcephaly, micrognathia, facial dysmorphism, short neck, webbed neck, low posterior hair line, fusion of cervical vertebrae, thoracolumbar scoliosis, camptomelic fingers
NewbornDx™Coverage: 97%
Kniest dysplasia
COL2A1
short arms and legs, underdeveloped pelvic bones, flattened spinal bones, short fingers and toes, small chest with short ribs
NewbornDx™Coverage: 100%
Knobloch syndrome
COL18A1
high myopia and retinal detachment, congenital occipital scalp defects, normal intelligence
NewbornDx™Coverage: 94%
Kohlschutter-Tonz syndrome
ROGDI
severe global developmental delay, early-onset intractable seizures, spasticity, amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth
NewbornDx™Coverage: 95%
Koolen-De Vries syndrome
KANSL1
severe intellectual disability, hypotonia, friendly demeanor, highly distinctive facial features
NewbornDx™Coverage: 100%
Kosaki overgrowth syndrome
PDGFRB
overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, neurologic deterioration
NewbornDx™Coverage: 100%
Kowarski syndrome
GH1
growth retardation and delayed bone age, normal or slightly increased GH secretion, pathologically low IGF1
NewbornDx™Coverage: 100%
L
L-2-hydroxyglutaric aciduria
L2HGDH
delayed development, seizures, hypotonia, abnormalities of the cerebrum
NewbornDx™Coverage: 96%
L-arginine:glycine amidinotransferase deficiency
GATM
hypotonia, development and motor delay, progressive proximal muscle weakness with Gowers sign and myopathic features, failure to thrive, brain MRS shows decreased creatine content
NewbornDx™Coverage: 100%
Lacrimo-auriculo-dento-digital
FGF10
irritable eyes, epiphora (constant tearing), xerostomia (dryness of the mouth), hand deformities
NewbornDx™Coverage: 100%
Langer mesomelic dysplasia
SHOX
severe limb aplasia or severe hypoplasia of the ulna and fibula, thickened and curved radius and tibia
NewbornDx™Coverage: 83%
Larsen syndrome
FLNB
dislocations of the hip, knee and elbow joints, foot deformities, short stature, dysmorphic facial features
NewbornDx™Coverage: 100%
Laryngoonychocutaneous syndrome
LAMA3
junctional epidermolysis bullosa, severe blistering and granulation tissue around the oral and nasal cavities, fingers, toes, and the upper airway(internal), laryngoonychocutaneous syndrome, hoarse cry, skin ulceration, recurrent loss of toenails and fingernails, conjunctival scarring, chronic bleeding, crusted lesions of the skin of the face
NewbornDx™Coverage: 100%
Lathosterolosis
SC5D
cholesterol biosynthesis defect, multiple congenital anomalies
NewbornDx™Coverage: 100%
Leber congenital amaurosis
AIPL1
nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia
NewbornDx™Coverage: 100%
CEP290
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 85%
CRB1
severe vision loss, nystagmus, poor fixation
NewbornDx™Coverage: 100%
CRX
severe vision loss, nystagmus, poor fixation
NewbornDx™Coverage: 100%
GDF6
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
GUCY2D
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 93%
IMPDH1
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 96%
IQCB1
nystagmus, poor fixation, severe vision impairment, renal disease
NewbornDx™Coverage: 97%
KCNJ13
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 100%
LCA5
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 94%
LRAT
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 100%
NMNAT1
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 93%
RPE65
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 99%
RPGRIP1
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 99%
TULP1
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 100%
Left ventricular non-compaction cardiomyopathy
ACTC1
hypertrophic cardiomyopathy, dilated cardiomyopathy
NewbornDx™Coverage: 100%
DTNA
hypertrophic left ventricle with deep trabeculations and poor systolic function
NewbornDx™Coverage: 99%
MIB1
left ventricular noncompaction cardiomyopathy
NewbornDx™Coverage: 99%
MYH7B
left ventricular non-compaction cardiomyopathy
NewbornDx™Coverage: 95%
Left-right axis malformations
LEFTY2
normally related great arteries, left ventricle hypoplasia, complete atrioventricular canal defect with a common atrioventricular valve
NewbornDx™Coverage: 100%
Legius syndrome
SPRED1
multiple cafe-au-lait spots, variable dysmorphic facial features
NewbornDx™Coverage: 95%
Leigh syndrome
BCS1L
lactic acidosis, microcephaly, hypotonia, hypoglycemia, failure to thrive, encephalopathy, hepatopathy, renal tubulopathy, seizures
NewbornDx™Coverage: 100%
COX4I1
delayed psychomotor development, dysmorphic facial features, hypotonia, ataxia, abnormalities of the brainstem and basal ganglia
NewbornDx™Coverage: 100%
LRPPRC
congenital lactic acidosis, neonatal distress, psychomotor delay, failure to thrive, acute metabolic acidosis, stroke-like symptoms, hypotonia, poor sucking, hypoglycemia, mild dysmorphic features
NewbornDx™Coverage: 95%
NDUFA10
white matter abnormalities, hypotonia, increased serum and CSF lactate, periods of abnormal breathing, hypertrophic cardiomyopathy, global developmental delay
NewbornDx™Coverage: 97%
NDUFA12
delayed motor development, progressive loss of motor abilities, development of scoliosis and dystonia, muscle atrophy, hypotonia, normal vision and hearing
NewbornDx™Coverage: 100%
NDUFA2
lactic acidosis, hypertrophic cardiomyopathy, developmental delay, brain anomalies, encephalomyelopathy
NewbornDx™Coverage: 100%
NDUFA4
focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord
NewbornDx™Coverage: 100%
NDUFA9
respiratory distress, metabolic acidosis, leigh syndrome, hearing loss, retinitis pigmentosa, choreodystonic movements
NewbornDx™Coverage: 99%
NDUFAF6
focal seizures, decreased movement and strength, ataxia, lactic acidosis, Leigh syndrome
NewbornDx™Coverage: 95%
NDUFS7
feeding problems, dysarthria, ataxia, vomiting, Leigh syndrome
NewbornDx™Coverage: 98%
SURF1
bilaterally symmetric necrotic lesions in subcortical brain regions
NewbornDx™Coverage: 90%
Lenz microphthalmia syndrome
NAA10
unilateral or bilateral microphthalmia or anophthalmia, defects in skeletal and genitourinary systems
NewbornDx™Coverage: 97%
Lenz-Majewski hyperostotic dwarfism
PTDSS1
delayed closure of fontanels, proximal symphalangism, prominent cutaneous veins, mental retardation, progressive skeletal sclerosis with severe growth retardation, thin, wrinkled, and atrophic skin, dysplasticdental enamel , brachydactyly and symphalangism, generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, severe growth retardation
NewbornDx™Coverage: 100%
LEOPARD syndrome
BRAF
cardiac defect, facial dysmorphism, keratosis pilaris, hypotonia, failure to thrive
NewbornDx™Coverage: 97%
RAF1
short stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, apparently low-set nipples, cryptorchidism (males), unusual facial features, hypertelorism, low-set ears, coagulation defect, lymphatic dysplasias, lentigines, hypertrophic cardiomyopathy, poor linear growth/short stature, dysmorphic features, variable degress of cognitive defect, skeletal anomalies, SNHL, cafe-au-lait macules
NewbornDx™Coverage: 99%
Lesch-Nyhan Syndrome
HPRT1
delayed motor skills, dystonia, choreoathetosis, self-injury behavior by age 2, over-production of uric acid resulting in uric acid crystals or calculi in kidney, testicular atrophy, short stature, mental retardation, megaloblastic anemia
NewbornDx™Coverage: 83%
Lethal arthrogryposis, with anterior horn cell disease
GLE1
congenital nonprogressive joint contractures
NewbornDx™Coverage: 99%
Lethal congenital contracture syndrome
ADCY6
arthrogryposis multiplex congenita, congenital distal joint contractures, reduced fetal movements
NewbornDx™Coverage: 100%
CNTNAP1
congenital distal joint contractures, polyhydramnios, reduced fetal movements, severe motor paralysis
NewbornDx™Coverage: 100%
DNM2
intermediate, symmetric, slowly progressive distal motor neuropathy of the arms and legs
NewbornDx™Coverage: 100%
ERBB3
congenital contractures, high myopia, degenerative vitreoretinopathy, distended urinary bladder, multiple pterygia, bone fractures, normal cognitive development
NewbornDx™Coverage: 100%
GLE1
congenital nonprogressive joint contractures
NewbornDx™Coverage: 99%
MYBPC1
respiratory insufficiency, severe multiple joint contractures, muscle wasting and atrophy primarily in legs
NewbornDx™Coverage: 100%
PIP5K1C
severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs; lacked the distended bladder which is in LCCS2; hydrops, fractures, multiple pterygia absence which is in LCCS1
NewbornDx™Coverage: 98%
Lethal restrictive dermopathy
ZMPSTE24
thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, generalized joint ankylosis
NewbornDx™Coverage: 100%
Leukemia, acute
PBX1
role in bone mineral density, risk of pre-B-cell acute lymphoblastic leukemia
NewbornDx™Coverage: 100%
RUNX1
epistaxis, easy bruisability, thrombocytopenia, abnormal platelet aggregation, prolonged bleeding time, normal platelet size, risk of myeloid malignancy
NewbornDx™Coverage: 99%
Leukocyte adhesion deficiency
FERMT3
recurrent bacterial and fungal infections, delayed wound healing, hepatmegaly, splenomegaly, petachiae, normal platelet count with defect platelet adhesion
NewbornDx™Coverage: 100%
Leukoencephalopathy
DARS2
leukoencephalopathy in the periventricular and deep white matter, hyperreflexia, joint contractures, muscle atrophy and weakness, nystagmus
NewbornDx™Coverage: 100%
RNASET2
extensive cysts within the anterior temporal lobes, ventricular enlargement, white matter disease, severe intellectual impairment, motor retardation, spasticity, microcephaly (variable)
NewbornDx™Coverage: 99%
Leukoencephalopathy with vanishing white matter
EIF2B4
progressive cerebellar ataxia, spasticity, white matter lesions, regression, hypotonia, sudden onset of seizures, hyperventilation
NewbornDx™Coverage: 100%
Liang distal myopathy
MYH7
muscle weakness, dilated cardiomyopathy
NewbornDx™Coverage: 100%
Limb-girdle muscular dystrophy
DYSF
muscle weakness and muscle atrophy of shoulders, hips, thighs, and upper arms
NewbornDx™Coverage: 100%
PLEC
epidermolysis bullosa simplex with pyloric atresia, severe skin blistering at birth, congenital pyloric atresia, epidermolysis bullosa simplex (Ogna type)
NewbornDx™Coverage: 100%
TCAP
proximal and distal muscle atrophy in lower limbs, areflexia in lower limbs, distal muscle weakness, elevated CK
NewbornDx™Coverage: 100%
TRIM32
nonprogressive muscular weakness
NewbornDx™Coverage: 100%
Limb-girdle muscular dystrophy/ Muscular dystrophy-dystroglycanopathy
DAG1
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 100%
Linear skin defects with multiple congenital anomalies
HCCS
unilateral or bilateral microphthalmia, skin that heal with age to form hyperpigmented areas
NewbornDx™Coverage: 94%
Lipoyltransferase deficiency
LIPT1
cardiac involvement (bradycardia, pulmonary hypertension), liver dysfunction, hypotonia, developmental delay, dystonic movments, white matter abnormalities, lactate acidosis
NewbornDx™Coverage: 100%
Lissencephaly
DCX
lissencephaly, subcortical band heterotopia, cerebral palsy, epileptic seizures, global development delay
NewbornDx™Coverage: 99%
LAMB1
hydrocephalus, seizures, severely delayed psychomotor development, cobblestone changes in the cortex, subcortical band heterotopia
NewbornDx™Coverage: 99%
NDE1
severe brain atrophy, microcephaly, profound mental retardation, seizures
NewbornDx™Coverage: 100%
PAFAH1B1
generalized hypotonia, microcephaly, seizures, abnormal brain MRI findings
NewbornDx™Coverage: 87%
RELN
microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, severe postnatal growth deficiency, hypertonia, hyperreflexia, seizures, profound mental retardation, brain malformations
NewbornDx™Coverage: 98%
TUBA1A
congenital microcephaly, hypotonia, mental retardation, seizures, motor delay, structural brain anomalities
NewbornDx™Coverage: 100%
Loeys-Dietz syndrome
SMAD3
aortic root dilation, arterial aneurysms, arterial tortuosity, pectus excavatum or carinatum, scoliosis, joint laxity or contractures, arachnodactyly, talipes equinovarus, cervical spine malformations, widely spaced eyes, bifid uvula, cleft palate, craniosynostosis, translucent skin, easy bruising, dystrophic scars
NewbornDx™Coverage: 100%
TGFB2
aortic aneurysm, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, clubfeet, thin skin with easy bruising and striae
NewbornDx™Coverage: 0%
TGFB3
aortic aneurysm, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, clubfeet, thin skin with easy bruising and striae
NewbornDx™Coverage: 0%
TGFBR1
aortic aneurysm, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, clubfeet, thin skin with easy bruising and striae
NewbornDx™Coverage: 0%
TGFBR2
aortic aneurysm, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, clubfeet, thin skin with easy bruising and striae
NewbornDx™Coverage: 0%
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA
hypoglycemia, lethargy, hypotonia, retinopathy, peripheral neuropathy, cardiomyopathy, respiratory failure
NewbornDx™Coverage: 100%
Long QT syndrome
KCNE2
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes)
NewbornDx™Coverage: 100%
KCNH2
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes), syncope, seizures, or sudden death
NewbornDx™Coverage: 95%
KCNJ5
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes)
NewbornDx™Coverage: 100%
KCNQ1
congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, high risk of sudden death
NewbornDx™Coverage: 90%
SCN4B
prolongation of corrected QT interval, long isoelectric ST segment, late-onset T wave, atrial fibrillation, atrioventricular node block
NewbornDx™Coverage: 100%
SCN5A
syncope, presyncope, dizziness, fatigue, sinus bradycardia, sinus arrest, sinoatrial block, absent P waves, atrial inexcitability, prolonged QRS duration, prolonged His-ventricle conduction time, ventricular escape rhythms, atrial arrhythmias, intraventricular conduction defects, progressive alteration of cardiac conduction
NewbornDx™Coverage: 100%
SNTA1
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes)
NewbornDx™Coverage: 94%
Lowe Syndrome
OCRL
cataracts, hypotonia, renal tubular dysfunction
NewbornDx™Coverage: 99%
Lymphedema-distichiasis syndrome
FOXC2
lymphedema of the limbs, double rows of eyelashes, corneal irritation, recurrent conjunctivitis
NewbornDx™Coverage: 94%
Lymphoproliferative syndrome
CD27
hypogammaglobulinemia, hemophagocytic lymphohistiocytosis
NewbornDx™Coverage: 100%
XIAP
severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV)
NewbornDx™Coverage: 86%
Lysinuric protein intolerance
SLC7A7
vomiting, diarrhea, failure to thrive, hepatomegaly, osteopenia, osteoporosis, muscle weakness, short stature, pulmonary alveolar proteinosis
NewbornDx™Coverage: 100%
Lysosomal acid lipase deficiency
LIPA
poor weight gain, diffuse punctate adrenal calcification, pulmonary hypertension, hepatosplenomegaly, vomiting, diarrhea, xanthomatous changes in liver, CNS, lungs, small intestine, spleen, lymph nodes
NewbornDx™Coverage: 100%
Lysyl hydroxylase deficiency
PLOD3
talipes equinovarus, progressive scoliosis, osteopenia, fractures, flat facial profile, simple, low-set ears, shallow orbits, short, upturned nose, downturned corners of the mouth, easy bruisability
NewbornDx™Coverage: 99%
M
Macrothrombocytopenia and progressive sensorineural deafness
MYH9
bilateral SNHL of high frequency, mild bleeding episodes, renal involvement
NewbornDx™Coverage: 100%
Macular dystrophy with central cone involvement
MFSD8
developmental standstill or regression, seizures, retinal degeneration
NewbornDx™Coverage: 99%
Majeed syndrome
LPIN2
chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, neutrophilic dermatosis
NewbornDx™Coverage: 99%
Malignant hyperthermia susceptibility
RYR1
mild congenital myopathy, motor developmental delay, mild proximal weakness most pronounced in the hip girdle musculature, risk of malignant hyperthermia, neonatal hypotonia, generalized muscle weakness and amyotrophy, fetal akinesia, arthrogryposis, lung hypoplasia, hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, rhabdomyolysis due to anesthesia
NewbornDx™Coverage: 97%
Malonyl-CoA decarboxylase deficiency
MLYCD
developmental delay, seizures, hypoglycemia, metabolic acidosis, increased malonic acid, hypertrophic cardiomyopathy, short stature, hypotonia
NewbornDx™Coverage: 93%
Mandibuloacral dysplasia with type B lipodystrophy
ZMPSTE24
thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, generalized joint ankylosis
NewbornDx™Coverage: 100%
Mandibulofacial dysostosis
EFTUD2
progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags
NewbornDx™Coverage: 100%
Manitoba oculotrichoanal syndrome
FREM1
eyelid colobomas, cryptophthalmos, anophthalmia/microphthalmia, gastrointestinal anomalies such as omphalocele and anal stenosis
NewbornDx™Coverage: 100%
Maple syrup urine disease
BCKDHA
maple syrup smelling cerumen, ketonuria, poor feeding, poor growth, irritability, developmental delay
NewbornDx™Coverage: 100%
BCKDHB
maple syrup smelling cerumen, ketonuria, poor feeding, poor growth, irritability, developmental delay
NewbornDx™Coverage: 99%
DBT
maple syrup smelling cerumen, ketonuria, irritability, lethargy, intermittent apnea, opisthotonus, poor feeding, leucinosis, coma, respiratory failure, risk of brain edema
NewbornDx™Coverage: 97%
Marden-Walker syndrome
PIEZO2
immobile facies, blepharophimosis, micrognathia, microcephaly, midfacial hypoplasia, multiple contractures, hypotonia, arachnodactyly, developmental delay, other anomalies
NewbornDx™Coverage: 97%
Marfan syndrome
FBN1
aortic root enlargement, ectopia lentis, pectus abnormalities, wrist and/or thumb sign, pneumothorax, reduced elbow extension, skin striae
NewbornDx™Coverage: 100%
Marinesco-Sjogren syndrome
SIL1
congenital cataracts, cerebellar ataxia, progressive muscle weakness, delayed psychomotor development, short stature, hypergonadotropic hypogonadism
NewbornDx™Coverage: 100%
Marshall syndrome
COL11A1
severe skeletal abnormalities, hearing loss, vision loss, very narrow chest, respiratory failure
NewbornDx™Coverage: 97%
Marshall-Smith syndrome
NFIX
accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation
NewbornDx™Coverage: 97%
Martsolf syndrome
RAB3GAP2
microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, corpus callosum hypoplasia, severe mental retardation, spastic diplegia, hypogonadism, failure to thrive, short stature, poor weight gain, feeding difficulties, brachycephaly, cardiomyopathy, mild maxillary hypoplasia, micrognathia, short philtrum, tracheomalacia, recurrent respiratory infections, severe intellectual disability, thin limbs, short toes, small palms, board fingertips, prominent nipples, cryptorchidism, micropenis
NewbornDx™Coverage: 94%
Maturity-onset diabetes of the young
BLK
noninsulin-dependent diabetes
NewbornDx™Coverage: 100%
HNF1A
noninsulin-dependent diabetes mellitus
NewbornDx™Coverage: 100%
KLF11
early-onset type II diabetes mellitus
NewbornDx™Coverage: 100%
NEUROD1
diabetes caused by primary insulin secretion defects
NewbornDx™Coverage: 100%
NKX2-2
diabetes caused by primary insulin secretion defects
NewbornDx™Coverage: 100%
May-Hegglin anomaly
MYH9
bilateral SNHL of high frequency, mild bleeding episodes, renal involvement
NewbornDx™Coverage: 100%
McArdle disease
PYGM
exercise-induced muscle cramps and pain, myoglobinuria, increased resting serum creatine kinase
NewbornDx™Coverage: 100%
McCune-Albright syndrome
GNAS
cafe-au-lait macules, fibrous dysplasia, endocrinopathies, Neonatal hypercortisolism, craniofacial abnormalities
NewbornDx™Coverage: 98%
McKusick-Kaufman syndrome
MKKS
postaxial polydactyly, congenital heart disease, hydrometrocolpos (females), genital malformations, rod-cone dystrophy, truncal obesity, renal abnormalities
NewbornDx™Coverage: 100%
Meckel syndrome
B9D1
encephalocele, polydactyly, renal dysplasia, biliary ductal dysplasia
NewbornDx™Coverage: 100%
CEP290
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 85%
EXOC4
cystic kidney disease, occipital encephalocele, polydactyly
NewbornDx™Coverage: 100%
NPHP3
cystic kidney disease, renal failure, anemia, polyuria, polydipsia, isosthenuria
NewbornDx™Coverage: 97%
TMEM67
mental retardation, cerebellar hypoplasia, hypotonia, developmental delay, hepatic fibrosis
NewbornDx™Coverage: 90%
Meconium ileus, diarrhea
GUCY2C
intestinal obstruction due to inspissated meconium in the distal ileum and cecum, diarrhea
NewbornDx™Coverage: 99%
Medium chain acyl-coenzyme A dehydrogenase deficiency
ACADM
intolerance to prolonged fasting, lethargy, vomiting, hypoglycemia, hepatomegaly, fatty liver
NewbornDx™Coverage: 0%
MEDNIK syndrome
AP1S1
severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, elevated very-long-chain fatty acids, severe congenital diarrhea
NewbornDx™Coverage: 99%
Medullary thyroid carcinoma
RET
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, identifiable brainstem lesion
NewbornDx™Coverage: 100%
Megalencephalic leukoencephalopathy
HEPACAM
macrocephaly, ataxia and spasticity, seizures, white matter abnormalities
NewbornDx™Coverage: 93%
MLC1
macrocephaly, ataxia, seizures, large subcortical cysts in frontal and temporal lobes of brain, diffuse swelling of white matter
NewbornDx™Coverage: 100%
Megalencephaly-capillary syndrome
PIK3CA
primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformation, syndactyly with or without postaxial polydactyly, connective tissue dysplasia, cortical brain malformations
NewbornDx™Coverage: 98%
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
AKT3
megalencephaly, hydrocephalus,polymicrogyria, macrocephaly
NewbornDx™Coverage: 97%
CCND2
ventriculomegaly or hydrocephalus and megalencephaly, severely delayed psychomotor development, postaxial polydactyly of the hands and/or feet, macrocephaly
NewbornDx™Coverage: 100%
PIK3R2
macrocephaly, hypotonia, frontal bossing, depressed nasal bridge, large eyes, hypotonia, megalencephaly, seizures, polymicrogyria, focal pachygyria, profound intellectual disability, no development, postaxial polydactyly
NewbornDx™Coverage: 91%
Megaloblastic anemia
CUBN
congenital megaloblastic anemia due to vitamin B12 deficiency, proteinuria, normal serum folate levels
NewbornDx™Coverage: 100%
DHFR
severe developmental delay and generalized seizures, megaloblastic anemia and/or pancytopenia
NewbornDx™Coverage: 100%
Megalocornea
CHRDL1
megalocornea, normal intraocular pressure, corneal dystrophy, lens abnormalities, iridodenesis
NewbornDx™Coverage: 99%
Meier-Gorlin syndrome
CDC6
primordial dwarfism, underdeveloped or missing kneecaps (patellae), microcephaly, delayed bone age, mild developmental delay, external genitalia abnormalites in males
NewbornDx™Coverage: 100%
CDT1
primordial dwarfism, underdeveloped or missing kneecaps (patellae), microcephaly, delayed bone age, mild developmental delay, external genitalia abnormalities (males)
NewbornDx™Coverage: 95%
ORC1
primordial dwarfism, underdeveloped or missing kneecaps (patellae), small ears, microcephaly, delayed bone age, feeding problems, mild developmental delay, external genitalia abnormalites in males, IUGR
NewbornDx™Coverage: 100%
ORC4
primordial dwarfism, underdeveloped or missing kneecaps (patellae), small ears, microcephaly, delayed bone age, feeding problems, mild developmental delay, external genitalia abnormalites in males, IUGR
NewbornDx™Coverage: 77%
ORC6
primordial dwarfism, underdeveloped or missing kneecaps (patellae), small ears, microcephaly, delayed bone age, feeding problems, mild developmental delay, external genitalia abnormalites in males, IUGR
NewbornDx™Coverage: 98%
Meleda disease
SLURP1
congenital symmetrical cornification of the palms and soles
NewbornDx™Coverage: 100%
Menkes disease
ATP7A
hypotonia, failure to thrive, short, sparse, coarse, twisted hair on head and eyebrows, umbilical or inguinal herniae, pectus excavatum, facial dysmorphism, skin laxity, temperature instability, vascular tortuosity, bladder diverticulae, hypoglycemia, subdural hematomas
NewbornDx™Coverage: 97%
Mental retardation with cerebellar hypoplasia and distinctive facial appearance
OPHN1
neonatal hypotonia with motor delay, strabismus, complex partial seizures, moderate to severe mental retardation
NewbornDx™Coverage: 95%
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
MEF2C
severe intellectual disability, hypotonia, seizures, inability to walk, stereotypic repetitive movements, dysmorphic facial features
NewbornDx™Coverage: 100%
Mesomelia-synostoses syndrome
SULF1
severe skeletal changes (ankles, knees, and elbows), brachymetacarpy, brachymetatarsy, ptosis, hypertelorism, palatal abnormality, congenital heart disease, ureteral anomalies
NewbornDx™Coverage: 96%
Metachromatic leukodystrophy
ARSA
progressive loss of motor and intellectual function, normal early develpment until age 1-2, hypotonia, frequent falls, toe walking, slurred speech, deteroriation of mental function, seizures, optic atrophy, tonic spasms, rigidity of limbs, loss of speech
NewbornDx™Coverage: 100%
PSAP
infantile onset severe motor deterioration, hypotonia, weakness, CNS demyelination, polyneuropathy, metachromatic deposits in macrophages
NewbornDx™Coverage: 100%
Metaphyseal anadysplasia
MMP9
short stature, bone abnormalities
NewbornDx™Coverage: 94%
Metaphyseal chondrodysplasia
PTH1R
short limbs, polyhydramnios, hydrops fetalis, facial anomalies (mid-facial hypoplasia), increased bone density, advanced skeletal maturation, death during infancy
NewbornDx™Coverage: 98%
Methemoglobinemia
CYB5R3
cyanosis, hypoxia, microcephaly, strabismus, developmental delay, hypertonia, spasticity
NewbornDx™Coverage: 97%
Methylmalonic acidemia and homocysteinemia, cblX type
HCFC1
short stature, failure to thrive, microcephaly, severely delayed psychomotor development, intractable seizures, hypotonia
NewbornDx™Coverage: 99%
Methylmalonic aciduria
CD320
asymptomatic, increased plasma and urine MMA, normal serum vitamin B12 levels
NewbornDx™Coverage: 100%
MMAA
metabolic acidosis, poor feeding, failure to thrive, vomiting, lethargy, seizures, developmental delay, tremors, blood disorders, hepatomegaly
NewbornDx™Coverage: 100%
MMAB
lethargy, vomiting, dehydration, hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, hyperglycinemia
NewbornDx™Coverage: 96%
MUT
lethargy, vomiting, dehydration, hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, hyperglycinemia
NewbornDx™Coverage: 100%
Methylmalonic aciduria and homocystinuria
ABCD4
lethargy, hypotonia, feeding difficulties, breathing difficulties, megaloblastic anemia, cytopenia, transient ischemic attack, metabolic acidosis, ketonuria, hyperammonemia
NewbornDx™Coverage: 100%
LMBRD1
lethargy, hypotonia, feeding difficulties, failure to thrive, breathing difficulties, megaloblastic anemia, recurrent infactions, developmental delay, reticulate pigmented skin abnormalities
NewbornDx™Coverage: 69%
MMACHC
microcephaly, failure to thrive, hypotonia, cytopenias, global developmental delay
NewbornDx™Coverage: 100%
MMADHC
acute metabolic decompensation, progressive encephalopathy, seizures, hypotonia, ataxia, failure to thrive, megaloblastic anemia, nystagmus
NewbornDx™Coverage: 99%
Methylmalonyl-CoA epimerase deficiency
MCEE
failure to thrive, gastroesophageal reflux, metabolic acidosis, dehydration, self-regulated protein restriction
NewbornDx™Coverage: 100%
Mevalonic aciduria
MVK
failure to thrive, microcephaly, hepatosplenomegaly, central cataracts, dysmorphic features, anemia, vomiting, diarrhea, brain anomalies, periodic febrile crises, rash
NewbornDx™Coverage: 100%
Microcephalic osteodysplastic primordial dwarfism
PCNT
extreme pre- and postnatal growth retardation, relative micromelia, progressive microcephaly, hand anomalies, delayed bone age, intellectual disability
NewbornDx™Coverage: 96%
Microcephaly and chorioretinopathy
TUBGCP6
microcephaly, retinal pigmentary abnormalities, decreased vision, hypotonia, delayed psychomotor development, structural brain malformations
NewbornDx™Coverage: 100%
Microcephaly and variable mental retardation
DPP6
microcephaly, mild to severe intellectual disability
NewbornDx™Coverage: 96%
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
KIF11
microcephaly with or without chorioretinopathy, lymphedema, mild-to-moderate mental retardation
NewbornDx™Coverage: 92%
Microcephaly, congenital cataract, and psoriasiform dermatitis
MSMO1
short stature, low weight, congenital cataracts, delayed bone age, joint contractures, ichthyosiform erythroderma sparing the palms
NewbornDx™Coverage: 99%
Microcephaly, epilepsy, and diabetes syndrome
IER3IP1
microcephaly, neonatal hypotonia, severe intellectual disability, seizures, simplified gyral pattern, infantile diabetes mellitus
NewbornDx™Coverage: 99%
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
QARS
progressive microcephaly, severe intractable seizures, hypotonia, profound developmental delay, hypomyelination or delayed myelination, thin corpus callosum, enlarged cerebral ventricles, small cerebellar vermis, simplified gyral pattern
NewbornDx™Coverage: 100%
Microcephaly, seizures, and developmental delay
PNKP
progressive microcephaly, hypotonia, muscle atrophy, infantile onset seizures, brain malformations, simplified gyral pattern, thin corpus callosum, clinical variability
NewbornDx™Coverage: 100%
Microcephaly, short stature, and impaired glucose metabolism
TRMT10A
microcephaly, intellectual disability, short stature, early-onset diabetes
NewbornDx™Coverage: 100%
Microcephaly, short stature, and polymicrogyria with seizures
RTTN
microcephaly, short stature, polymicrogyria, moderate to severe mental retardation, poor speech, dysarthria, seizures
NewbornDx™Coverage: 97%
Microcephaly-capillary malformation syndrome
STAMBP
progressive microcephaly, refractory epilepsy, profound developmental delay, multiple small capillary malformations throughout body
NewbornDx™Coverage: 92%
Microphthalmia
ABCB6
iris and/or chorioretinal coloboma, microphthalmia
NewbornDx™Coverage: 100%
BCOR
OFCD (only in females), cardiac abnormalities, tooth anomaly radiculomegaly, toe anomalies
NewbornDx™Coverage: 100%
BMP4
anophthalmia or microphthalmia, digital anomalies, micrognathia, underdevelopmented external genitalia, developmental delay, growth delay
NewbornDx™Coverage: 100%
GDF3
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
PRSS56
extreme hyperopia due to short axial length, normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, thickened scleral wall, palpebral fissures appear narrow, mildly to moderately reduced visual acuity, anisometropic or strabismic amblyopia, crowded optical discs, tortuous vessels, abnormal foveal avascular zone, papillomacular folds
NewbornDx™Coverage: 97%
RARB
bilateral microphthalmia, pulmonary hypoplasia, diaphragmatic hernia, sparse hair, brachycephaly, deep-set orbits, short palpebral fissures, flat nasal bridge
NewbornDx™Coverage: 100%
SHH
hydronephrosis, cyclopia, ocular hypotelorism, single brain ventricle midface hypoplasia, holoprosencephaly
NewbornDx™Coverage: 100%
SOX2
anophthalmia or microphthalmia
NewbornDx™Coverage: 100%
STRA6
bilateral anophthalmia or microphthalmia, right diaphragmatic hernia, agenesis of the right lung and pulmonary vessels, intrauterine growth retardation
NewbornDx™Coverage: 97%
Miller syndrome
DHODH
severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, supernumerary nipples, exophthalmos
NewbornDx™Coverage: 100%
Minicore myopathy
RYR1
mild congenital myopathy, motor developmental delay, mild proximal weakness most pronounced in the hip girdle musculature, risk of malignant hyperthermia, neonatal hypotonia, generalized muscle weakness and amyotrophy, fetal akinesia, arthrogryposis, lung hypoplasia, hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, rhabdomyolysis due to anesthesia
NewbornDx™Coverage: 97%
Mitchell-Riley syndrome
RFX6
neonatal diabetes, pancreatic hypoplasia, intestinal atresia, gallbladder aplasia or hypoplasia
NewbornDx™Coverage: 98%
Mitochondrial complex I deficiency
FOXRED1
hypotonia, lactic acidosis, irritability, acquired microcephaly, cortical blindness, seizures, white matter abnormalities
NewbornDx™Coverage: 100%
NDUFA1
progressive neurodegenerative during intercurrent illnesses
NewbornDx™Coverage: 93%
NDUFA11
infantile metabolic acidosis, hypertrophic cardiomyopathy, encephalocardiomyopathy, no motor development
NewbornDx™Coverage: 98%
NDUFA13
hypotonia, dyskinesia, sensorial deficiencies
NewbornDx™Coverage: 100%
NDUFAF1
hypertrophic cardiomyopathy, developmental delay, lactic acidosis, hypotonia
NewbornDx™Coverage: 97%
NDUFAF2
severe childhood-onset progressive encephalopathy, white matter abnormalities
NewbornDx™Coverage: 0%
NDUFAF3
myoclonic seizures, diffuse brain leukomalacia, macrocephaly, a weak cry, wide anterior fontanel, axial hypotonia
NewbornDx™Coverage: 100%
NDUFAF4
infantile mitochondrial encephalopathy
NewbornDx™Coverage: 94%
NDUFAF5
lactic acidosis, dysmorphic features, developmental delay, progressive spasticity
NewbornDx™Coverage: 97%
NDUFAF7
complex I deficiency
NewbornDx™Coverage: 100%
NDUFB3
IUGR, hypotonia with poor feeding and significant lactic acidosis, myopathy, developmental delay, decreased complex I deficiency
NewbornDx™Coverage: 100%
NDUFB9
progressive hypotonia during infancy, elevated serum lactate, complex I deficiency
NewbornDx™Coverage: 100%
NDUFS1
growth retardation, axial hypotonia, hepatomegaly, persistent hyperlactatemia, regression of early developmental milestones, dystonic posturing, difficulty swallowing, elevated lactate
NewbornDx™Coverage: 99%
NDUFS2
lactic acidosis, hypertrophic cardiomyopathy, Leigh syndrome
NewbornDx™Coverage: 100%
NDUFS3
encephalopathy, myopathy, developmental delay, lactic acidosis, severe axial dystonia, dysphagia
NewbornDx™Coverage: 100%
NDUFS4
lactic acidosis, failure to thrive, hypotonia, lethargy, basal ganglia hyperintensities, hypertrophic cardiomyopathy
NewbornDx™Coverage: 99%
NDUFS6
fatal infantile lactic acidosis
NewbornDx™Coverage: 86%
NDUFS8
Leigh syndrome, hypotonia, lactic acidosis, hypertrophic cardiomyopathy, seizures
NewbornDx™Coverage: 100%
NDUFV1
encephalopathy, complex I deficiency
NewbornDx™Coverage: 100%
NDUFV2
hypertrophic cardiomyopathy, truncal hypotonia, encephalopathy
NewbornDx™Coverage: 90%
NUBPL
white matters abnormalities/lesions, myopathy, regression or episodic regression
NewbornDx™Coverage: 94%
Mitochondrial complex II deficiency
SDHAF1
neonatal hypotonia, muscle weakness, cardiomyopathy, ptosis, regression in infants, decreased vision, hyperreflexia, spasticity, ataxia, lactic acidosis
NewbornDx™Coverage: 100%
SDHB
risk for various types of tumors
NewbornDx™Coverage: 100%
SDHD
progressive encephalomyopathy with dementia, myoclonic seizures, short stature, complete external ophthalmoplegia, pigmentary retinopathy, ataxia
NewbornDx™Coverage: 80%
Mitochondrial complex III deficiency
BCS1L
lactic acidosis, microcephaly, hypotonia, hypoglycemia, failure to thrive, encephalopathy, hepatopathy, renal tubulopathy, seizures
NewbornDx™Coverage: 100%
CYC1
recurrent episodes of lactic acidosis and metabolic decompensation, insulin-responsive hyperglycemia, normal psychomotor development
NewbornDx™Coverage: 88%
TTC19
ataxia, apraxia, dystonia, dysarthria, necrotic lesions in the brain
NewbornDx™Coverage: 84%
UQCC2
IUGR, hypotonia, lactic acidosis, dysmorphic features, global developmental delay, sensorineural hearing loss, proximal renal tubular acidosis, seizures
NewbornDx™Coverage: 100%
UQCC3
feeding difficulties, hypoglycemia, severe lactic acidosis, delayed psychomotor development
NewbornDx™Coverage: 100%
UQCRB
hypoglycemia, metabolic acidosis, hyperlactatemia(during metabolic crisis), normal development
NewbornDx™Coverage: 99%
UQCRC2
metabolic acidosis, hyperammonemia, hypoglycemia, poor sucking, episodic metabolic decompensation, developmental delay
NewbornDx™Coverage: 98%
UQCRQ
developmental delay, dystonia, ataxia, mild axial hypotonia, hypertonia tone, hyperreflexia
NewbornDx™Coverage: 100%
Mitochondrial complex IV deficiency
APOPT1
leukodystrophy, acute loss of developmental milestones, partial improvement, spastic tetraparesis, ataxia, polyneuropathy
NewbornDx™Coverage: 82%
COX10
leukodystrophy, renal tubulopathy, muscle weakness, hypotonia, ataxia, ptosis, seizures
NewbornDx™Coverage: 100%
COX14
severe metabolic lactic acidosis, ketonuria, brain hypertrophy, abnormal myelination, numerous cavities throughout the brain, hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, adrenal hyperplasia
NewbornDx™Coverage: 100%
COX15
microcephaly, lactic acidosis, respiratory distress, seizures, hypertrophic cardiomyopathy, limb spasticity
NewbornDx™Coverage: 100%
COX20
cerebellar ataxia, dystonia, sensory axonal neuropathy, delayed motor development
NewbornDx™Coverage: 87%
COX6B1
normal early development with regression, muscle weakness, unsteady gait, leukodystrophic brain changes and seizures, decreased vision
NewbornDx™Coverage: 100%
FASTKD2
developmental delay, hemiplegia, convulsions, asymmetric brain atrophy, low cytochrome C oxidase activity in skeletal muscles
NewbornDx™Coverage: 99%
PET100
hypotonia, seizures, global developmental delay, failure to thrive, Leigh syndrome, cortical blindness
NewbornDx™Coverage: 100%
SCO1
poor feeding, failure to thrive, progressive hypotonia, hepatomegaly, increased blood lactate, alanine, and transaminases, cardiac hypertrophy
NewbornDx™Coverage: 100%
TACO1
normal early development, dystonia, dysarthria, mild-to-moderate intellectual disability, optic atrophy, hypotonia, renal tubulopathy, white matter changes
NewbornDx™Coverage: 100%
Mitochondrial complex V deficiency
ATP5E
dysmorphic facial features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys, lactate acidosis
NewbornDx™Coverage: 100%
ATPAF2
lactic acidosis, 3-methylglutaconic aciduria, mild mental retardation, developed peripheral neuropathy
NewbornDx™Coverage: 100%
TMEM70
hypertrophic cardiomyopathy, lactic acidosis, mild psychomotor retardation, hypospadias, facial dysmorphism
NewbornDx™Coverage: 99%
Mitochondrial disease
MFF
global developmental delay, hypotonia, pale optic nerves, normal lactate
NewbornDx™Coverage: 100%
Mitochondrial DNA depletion syndrome
C10orf2
hypotonia, athetosis, decreased reflexes, autonomic dysfunction, optic atrophy, hearing loss, seizures
NewbornDx™Coverage: 100%
DGUOK
lactic acidosis, hypoglycemia, severe myopathy, developmental regression, rotary nystagmus, liver failure
NewbornDx™Coverage: 100%
FBXL4
severe psychomotor delay with hypotonia, failure to thrive, swallowing difficulties, lactic acidosis, muscle wasting, severe truncal ataxia
NewbornDx™Coverage: 100%
MGME1
progressive external ophthalmoplegia, muscle weakness and atrophy, respiratory insufficiency
NewbornDx™Coverage: 100%
MPV17
progressive liver failure
NewbornDx™Coverage: 100%
RRM2B
feeding difficulties, failure to thrive, hypotonia, lactic acidosis, massive aminoaciduria consistent with a renal proximal tubulopathy, progressive muscle weakness
NewbornDx™Coverage: 100%
SLC25A4
progressive hypertrophic cardiomyopathy, generalized skeletal myopathy
NewbornDx™Coverage: 100%
SUCLA2
hypotonia, failure to thrive, lactic acidosis, muscle weakness, progressive neurologic deterioration, inconsolable crying, irritability, external ophthalmoplegia, deafness
NewbornDx™Coverage: 100%
SUCLG1
hypotonia, lactic acidosis, feeding difficulties, failure to thrive, progressive neurologic deterioration, basal ganglias lesions, cerebral atrophy
NewbornDx™Coverage: 95%
TK2
progressive generalized hypotonia, progressive external ophthalmoplegia, severe lactic acidosis, myopathy
NewbornDx™Coverage: 97%
Mitochondrial myopathy and sideroblastic anemia
PUS1
myopathy, lactic acidosis, sideroblastic anemia, failure to thrive (some cases), intellectual disability, motor delay
NewbornDx™Coverage: 100%
Mitochondrial phosphate carrier deficiency
SLC25A3
hypertrophic cardiomyopathy, cyanosis, severe hypotonia, failure to thrive
NewbornDx™Coverage: 100%
Mitochondrial pyruvate carrier deficiency
MPC1
poor growth, lactic acidosis, hypoglycemia, hypotonia, hepatomegaly, delayed psychomotor development
NewbornDx™Coverage: 100%
Mitochondrial recessive ataxia syndrome
POLG
severe encephalopathy with intractable epilepsy, hepatic failure
NewbornDx™Coverage: 100%
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
ECHS1
hypotonia, episodic apnea, spasticity, dystonia, white matter abnormalities, elevated serum and CSF lactate
NewbornDx™Coverage: 100%
Miyoshi muscular dystrophy
DYSF
muscle weakness and muscle atrophy of shoulders, hips, thighs, and upper arms
NewbornDx™Coverage: 100%
Molybdenum cofactor deficiency
GPHN
seizures, hypertonicity, brain anomalies (cerebral atrophy, thin corpus callosum, cystic lysis of the deep white matter), demylination, nystagmus, dislocated lenses, progressive microcephaly or macrocephaly due to hydrocephalus, dysmorphic features, asymmetry of the skull
NewbornDx™Coverage: 98%
MOCS1
seizures, hypertonia, brain anomalies (cerebral atrophy, thin corpus callosum, cystic lysis of the deep white matter), demylination, nystagmus, dislocated lenses, progressive microcephaly or macrocephaly due to hydrocephalus, dysmorphic facial features
NewbornDx™Coverage: 97%
MOCS2
seizures, hypertonia, brain anomalies (cerebral atrophy, thin corpus callosum, cystic lysis of the deep white matter), demylination, nystagmus, dislocated lenses, progressive microcephaly or macrocephaly due to hydrocephalus, dysmorphic facial features
NewbornDx™Coverage: 100%
Monilethrix
KRT81
development of fragile, brittle hair (normal hair at birth), hair fractures and produces varying degrees of dystrophic alopecia
NewbornDx™Coverage: 100%
KRT83
development of fragile, brittle hair (normal hair at birth), hair fractures and produces varying degrees of dystrophic alopecia
NewbornDx™Coverage: 100%
KRT86
development of fragile, brittle hair (normal hair at birth), hair fractures and produces varying degrees of dystrophic alopecia
NewbornDx™Coverage: 100%
Monocarboxylate transporter deficiency
SLC16A1
poor feeding, cyclic vomiting, mild-to-moderate intellectual disability, ketoacidosis, ketotic hypoglycemia, ketonuria
NewbornDx™Coverage: 100%
Mosaic variegated aneuploidy syndrome
BUB1B
severe intrauterine growth retardation, microcephaly, eye anomalies, mild facial dysmorphism, broad spectrum of additional congenital abnormalities
NewbornDx™Coverage: 98%
Mowat-Wilson syndrome
ZEB2
microcephaly, short stature, structural cardiac defect, moderate to severe intellectual disability, seizures, hypotonia, imparied or absent speech, GU abnormalies, constipation, accessory nipple, facial dysmorphism
NewbornDx™Coverage: 100%
Muckle-Wells syndrome
NLRP3
recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis related to exposure to cold temperatures
NewbornDx™Coverage: 100%
Mucolipidosis type IV
MCOLN1
severe psychomotor delay, progressive visual impairment, retinal degeneration, cloudy cornea
NewbornDx™Coverage: 98%
Mucolipidosis, type II
GNPTAB
short stature, mildly coarse facies, corneal clouding, retinopathy, aortic insufficiency, dysostosis multiplex, kyphosis, premature closure of cranial sutures, vertebral beaking, abnormal bones, claw-hand deformities
NewbornDx™Coverage: 99%
Mucolipidosis, type III
GNPTG
growth rate deceleration, joint stiffness, gradual mild coarsening of facial features, genu valgum, mild-to-moderate dysostosis multiplex
NewbornDx™Coverage: 90%
Mucopolysaccharidosis type I
IDUA
short stature, coarse facies, corneal clouding, mental retardation, hernias, dysostosis multiplex, hepatosplenomegaly
NewbornDx™Coverage: 92%
Mucopolysaccharidosis type II
IDS
short stature, hepatosplenomegaly, joint contractures, and coarse facies, frequent ear/sinus infections and umbilical hernia, dysostosis multiplex, absent or reduced iduronate 2-sulfatase (I2S) enzyme activity
NewbornDx™Coverage: 99%
Mucopolysaccharidosis type III
GNS
coarse facies, short stature, mild hepatomegaly and splenomegaly, joint contractures, seizures, global developmental delay
NewbornDx™Coverage: 99%
Mucopolysaccharidosis type IV
GLB1
developmental regression, hepatosplenomegaly, skeletal abnormalities, seizures, profound intellectual disability, corneal clouding, retinopathy, cherry-red spot, cardiomyopathy, gingival hypertrophy
NewbornDx™Coverage: 100%
Mucopolysaccharidosis type VII
GUSB
hydrops fetalis, macrocephaly, coarse facies, macroglossia, hepatosplenomegaly, valvular heart disease, contractures, recurrent ear infections, dyostosis multiplex, corneal opacies, anterior beaking of lower thoracic and lumbar vertebrae, short stature
NewbornDx™Coverage: 99%
Mucopolysaccharidosis, type III
HGSNAT
mild coarse facies, hearing loss, clear cornea, retinal degeneration, asymmetric septal hypertrophy, thickened ribs, hepatomegaly, splenomegaly, diarrhea, dysostosis multiplex, kyphoscoliosis, mental retardation
NewbornDx™Coverage: 94%
NAGLU
failure to thrive, developmental delay, hepatomegaly, diarrhea, coarse hair, protuberant abdomen, normal facies
NewbornDx™Coverage: 100%
SGSH
claw hand, visceromegaly, little or no corneal clouding, seizures, coarse facies, dense calvaria
NewbornDx™Coverage: 97%
Multicentric carpotarsal osteolysis syndrome
MAFB
progressive destruction of the carpal and tarsal bone, chronic renal failure
NewbornDx™Coverage: 100%
Multicentric osteolysis, nodulosis, and arthropathy
MMP2
subcutaneous nodules in joints, knees, feet, elbows, pretibial, hyperpigmented erythematous lesions, osteoporosis, flexion contracture, finger contractures
NewbornDx™Coverage: 100%
Multiple congenital anomalies
MEIS2
cleft palate, cardiac defects, mild intellectual disability
NewbornDx™Coverage: 100%
Multiple congenital anomalies-hypotonia-seizures syndrome
PIGA
neonatal hypotonia, myoclonic seizures, congenital anomalies of CNS, cardiac and urinary system
NewbornDx™Coverage: 100%
PIGN
neonatal hypotonia, myoclonic seizures, congenital anomalies of CNS, cardiac and urinary system
NewbornDx™Coverage: 81%
PIGT
neonatal hypotonia, lack of development, seizures, dysmorphic features, cardiac, urinary and GI system (GE reflux, stenosis, imperforate anus) anomalies, brain malformation, death before age 3 reported
NewbornDx™Coverage: 100%
Multiple cutaneous and mucosal venous malformations
TEK
venous malformation in which lesions tend to be multifocal and small
NewbornDx™Coverage: 100%
Multiple endocrine neoplasia, type 2
RET
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, identifiable brainstem lesion
NewbornDx™Coverage: 100%
Multiple epiphyseal dysplasia
SLC26A2
malformations of the hands, feet, knees, scoliosis, disorder of cartilage and bone development
NewbornDx™Coverage: 100%
Multiple epiphyseal dysplasia with early-onset diabetes mellitus
EIF2AK3
permanent insulin-dependent diabetes, epiphyseal dysplasia, osteoporosis, growth retardation
NewbornDx™Coverage: 98%
Multiple joint dislocation syndrome
B3GAT3
short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, brachycephaly, small mouth, congenital heart defects, mild intellectual disability
NewbornDx™Coverage: 95%
Multiple mitochondrial dysfunctions dyndrome
BOLA3
developmental regression, encephalopathic disease, increased serum glycine, increased serum lactate
NewbornDx™Coverage: 93%
Multiple mitochondrial dysfunctions syndrome
IBA57
encephalomyopathy, microcephaly, IUGR, retrognathia, high palate, widely spaced nipples, and arthrogryposis of elbows, wrists, fingers, and knees, white matter abnormalities, severe lactic acidosis and increased glycine in cerebrospinal fluid (CSF)
NewbornDx™Coverage: 98%
NFU1
hypotonia, seizures, failure to thrive, delayed development of mental and movement abilities, lethargy, lactic acidosis, neurological regression, white matter lesions, respiratory failure
NewbornDx™Coverage: 83%
Multiple pterygium syndrome
CHRNG
webbing (pterygia) of the neck, elbows, and/or knees, joint contractures, muscle atrophy, dysmorphism, skeletal anomalies
NewbornDx™Coverage: 100%
Multiple sulfatase deficiency
SUMF1
leukodystrophy, dysostosis multiplex, ichthyosis, hypotonia, scoliosis, hepatosplenomegaly, hearing loss
NewbornDx™Coverage: 100%
Multiple synostoses syndrome
NOG
multiple joint fusions, conductive hearing loss, characteristic facial features
NewbornDx™Coverage: 100%
Muscular dystrophy dystroglycanopathy
B3GALNT2
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 91%
B4GAT1
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 100%
Muscular dystrophy-dystroglycanopathy
FKRP
hypotonia, muscle weakness with contractures of the hips, knees, and interphalangeal joints, severe developmental delay, myopathic facial appearance, pseudohypertrophy of the calves and forearms
NewbornDx™Coverage: 100%
FKTN
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 97%
GMPPB
hypertonia, microcephaly, cleft palate, feeding difficulties, pontine and cerebellar hypoplasia, retinal dystrophy, mental retardation
NewbornDx™Coverage: 100%
ISPD
macrocephaly, eye anomalies (retinal detachments, cataracts, optic nerve hypoplasia, glaucoma, microphthalmia, Persistent hyperplastic primary vitreous), hypotonia, muscle dystrophy, brian malformations
NewbornDx™Coverage: 94%
LARGE1
hypotonia, poor spontaneous movements, muscle weakness, delay or arrest of gross motor development with joint and/or spinal rigidity
NewbornDx™Coverage: 100%
POMGNT1
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 100%
POMGNT2
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 100%
POMK
congenital muscular dystrophy resulting in muscle weakness (with or without brain and eye anomalies), hypotonia, poor feeding, brain malformation, cataracts, colobomas, severe developmental delay
NewbornDx™Coverage: 100%
TMEM5
cobblestone lissencephaly, cerebellar dysplasia, retinal dysplasia, gonadal dysgenesis, occipital neural tube defects
NewbornDx™Coverage: 92%
Myhre syndrome
SMAD4
mental retardation, dysmorphic facial features, microcephaly, blepharophimosis, short stature, iliac hypoplasia, brachydactyly, flattened vertebrae, thickened calvaria
NewbornDx™Coverage: 100%
Myoadenylate deaminase Deficiency
AMPD1
exercise-induced muscle pain, rhabdomyolysis and/or increased serum creatine kinase, hypotonia
NewbornDx™Coverage: 100%
Myoclonic dystonia
SGCE
myoclonus, dystonia
NewbornDx™Coverage: 91%
Myoclonic-atonic epilepsy
SLC6A1
mild to severe intellectual disability, developmental delay prior to onset of seizures, myoclonic-atonic seizures, absence seizures, eyelid myoclonus, Autistic features, temors (some cases), ataxia (some cases)
NewbornDx™Coverage: 100%
Myofibrillar myopathy
CRYAB
progressive muscular rigidity
NewbornDx™Coverage: 100%
Myopathy, areflexia, respiratory distress, and dysphagia
MEGF10
proximal and generalized muscle weakness, respiratory distress, facial weakness, areflexia, hypotonia
NewbornDx™Coverage: 100%
Myopathy, lactic acidosis, and sideroblastic anemia
YARS2
cardiomyopathy, respiratory insufficiency resulting in early death
NewbornDx™Coverage: 100%
Myopathy, proximal, with early respiratory muscle involvement
TTN
myopathy, cardiomyopathy
NewbornDx™Coverage: 99%
Myopathy, X-linked, with excessive autophagy
VMA21
muscle weakness, atrophy of proximal muscles
NewbornDx™Coverage: 98%
Myosin storage myopathy
MYH7
muscle weakness, dilated cardiomyopathy
NewbornDx™Coverage: 100%
Myotonia congenita
CLCN1
episodes of muscle stiffness (myotonia) or cramps
NewbornDx™Coverage: 100%
Myotubular myopathy
MTM1
hypotonia, muscle weakness, respiratory distress, diaphragm abnormality, abnormal liver function, joint contractures, long slender digits
NewbornDx™Coverage: 89%
N
N-acetylglutamate synthase deficiency
NAGS
hyperammonemia, lethargy, unwillingness to eat, recurrent vomiting, seizures, coma, respiratory distress
NewbornDx™Coverage: 92%
Nail-patella syndrome
LMX1B
dysplasia of the nails, absent or hypoplastic patellae
NewbornDx™Coverage: 98%
Nance-Horan syndrome
NHS
congenital nuclear cataracts, dental anomalies, craniofacial dysmorphisms
NewbornDx™Coverage: 97%
Native American myopathy
STAC3
muscle weakness, susceptibility to malignant hyperthermia, multiple joint contractures, dysmorphic facial features
NewbornDx™Coverage: 100%
Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCM4
poor growth, microcephaly, recurrent respiratory infections, hapatomegaly, splenomegaly, lung fibrosis, hyperpigmentation, adrenal insufficiency, corticosteroid deficiency, lymphadenopathy
NewbornDx™Coverage: 100%
Naxos disease
JUP
right ventricular dysplasia/cardiomyopathy, trauma-induced blisters and erosions on the extremities, diffuse hyperkeratotic palmoplantar plaques, dystrophic nails, woolly or curly hair, sparse to absent scalp hair
NewbornDx™Coverage: 100%
Nemaline myopathy
ACTA1
congenital hypotonia, generalized weakness, failure to thrive, scoliosis
NewbornDx™Coverage: 100%
KLHL40
fetal akinesia or hypokinesia, contractures, fractures, respiratory failure, swallowing difficulties, chest deformity
NewbornDx™Coverage: 100%
KLHL41
progressive muscle weakness
NewbornDx™Coverage: 100%
LMOD3
generalized muscle weakness, hypotonia with respiratory insufficiency, feeding difficulties
NewbornDx™Coverage: 91%
NEB
muslce weakness, hypotonia, depressed or absent deep tendon reflexes
NewbornDx™Coverage: 100%
TNNT1
neonatal tremors, progressive proximal contractures
NewbornDx™Coverage: 98%
TPM2
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
TPM3
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
Neonatal adrenoleukodystrophy
PEX1
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 97%
PEX10
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 98%
PEX12
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX13
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX5
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX6
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
Neonatal cholestasis
NR1H4
intralobular cholestasis, jaundice, failure to thrive, liver failure
NewbornDx™Coverage: 96%
Neonatal diabetes mellitus
ABCC8
large for gestational age, diffuse islet cell hyperplasia, hypoglycemia seizures
NewbornDx™Coverage: 99%
GLIS3
neonatal diabetes mellitus, congenital hypothyroidism, glaucoma, polycystic kidneys, cholestasis, hepatic fibrosis
NewbornDx™Coverage: 100%
INS
hyperinsulinemia, hyperglycemia, normal response to exogenously administered insulin
NewbornDx™Coverage: 100%
KCNJ11
large for gestational age, diffuse islet cell hyperplasia, hypoglycemia, hyperinsulinemia
NewbornDx™Coverage: 100%
ZFP57
insulin-requiring hyperglycemia, transient diabetes - resolves at a median age of 3 months, permanent diabetes
NewbornDx™Coverage: 100%
Neonatal diabetes with cerebellar agenesis
PTF1A
microcephaly, irregular breathing, episodic apnea, pancreatic agenesis or hypoplasia, seizures, cerebellar hypoplasia or agenesis, neonatal diabete mellitus
NewbornDx™Coverage: 93%
Nephrogenic diabetes insipidus
AQP2
failure to thrive, short stature, poor feeding, irrritability, seizures, inability to concentrate the urine, polydipsia
NewbornDx™Coverage: 100%
Nephronophthisis
DCDC2
hepatomegaly, hepatic fibrosis, splenomegaly, nephronophthisis
NewbornDx™Coverage: 99%
INVS
hypertension, respiratory failure, renal failure by age 3, chronic tubulointerstitial nephritis, hyperkalemic metabolic acidosis, neonatal death secondary to pulmonary insufficiency
NewbornDx™Coverage: 100%
NPHP1
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 97%
NPHP3
cystic kidney disease, renal failure, anemia, polyuria, polydipsia, isosthenuria
NewbornDx™Coverage: 97%
NPHP4
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
WDR19
end stage renal failure, small kidneys, interstitial fibrosis
NewbornDx™Coverage: 93%
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
nephritis, recurrent infected skin blisters of the legs, nail dystrophy, bilateral lacrimal duct stenosis, sensorineural hearing loss
NewbornDx™Coverage: 100%
Nephrotic syndrome
ARHGDIA
progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia, edema
NewbornDx™Coverage: 100%
DGKE
acute renal failure
NewbornDx™Coverage: 93%
NPHS1
prenatal onset of proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure
NewbornDx™Coverage: 100%
Netherton syndrome
SPINK5
neonatal scaling erythroderma, bamboolike hair defect, profound atopic diathesis
NewbornDx™Coverage: 91%
Neu-Laxova syndrome
PHGDH
postnatal growth retardation, congenital microcephaly, hypogonadism, hypertonia, profound psychomotor retardation and epilepsy, dysmyelination
NewbornDx™Coverage: 100%
PSAT1
microcephaly, sloping forehead, low-set or malformed ears, flat or abnormal nose, micrognathia, abnormal round and gaping mouth, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, edema of the hands and feet
NewbornDx™Coverage: 100%
Neuroblastic tumor susceptibility
ALK
neuroblastic tumors (including neuroblastoma, ganglioneuroblastoma, ganglioneuroma)
NewbornDx™Coverage: 100%
Neurodegeneration with brain iron accululation
WDR45
global developmental delay, iron accumulation in the brain
NewbornDx™Coverage: 100%
Neurodevelopmental disorder with diabetes
GFM2
microcephaly, insulin-dependent diabetes, lack of development
NewbornDx™Coverage: 93%
Neurofibromatosis, type 1
NF1
multiple caf-au-lait spots
NewbornDx™Coverage: 0%
Neuronal ceroid lipofuscinosis
CLN3
progressive severe vision loss, retinal degeneration, generalized tonic-clonic seizures and/or complex-partial seizures
NewbornDx™Coverage: 98%
CLN5
progressive retinal degeneration, cognitive and motor decline, seizures
NewbornDx™Coverage: 100%
CLN6
progressive retinal degeneration, developmental standstill or regression, severe epilepsy, ataxia, myoclonus
NewbornDx™Coverage: 96%
CLN8
progressive retinal degeneration, developmental standstill or regression, severe epilepsy
NewbornDx™Coverage: 100%
CTSD
microcephaly, retinal degeneration, rigidity, seizures, cerebral and cerebellar atrophy, ataxia, seizures
NewbornDx™Coverage: 96%
MFSD8
developmental standstill or regression, seizures, retinal degeneration
NewbornDx™Coverage: 99%
PPT1
infantile onset, progressive intellectual and motor deterioration, seizures, early death, visual loss due to retinal degeneration
NewbornDx™Coverage: 100%
TPP1
progressive congnitive decline/regression, seizures, retinal degeneration, progressive visual failure
NewbornDx™Coverage: 100%
Neuronaxonal dystrophy
PLA2G6
progressive iron accumulation in the basal ganglia and other regions of the brain, extrapyramidal movements
NewbornDx™Coverage: 100%
Neutrophil immunodeficiency syndrome
RAC2
recurrent infections, failure of surgical wounds to heal, normal levels of serum immunoglobulins, normal complement activity (CH50 and C3), low-normal numbers of total T and B cells
NewbornDx™Coverage: 100%
Nicolaides-Baraitser syndrome
SMARCA2
IUGR, failure to thrive, dysmorphic facial features, cryptorchidism, prominent interphalangeal joints, short phalanges, wringkly skin, severe mental retardation, seizures
NewbornDx™Coverage: 98%
Niemann-Pick disease
NPC1
ataxia, grand mal seizures, spasticity, dystonia, vertical supranuclear gaze palsy, developmental delay, sea-blue histiocytes in the marrow
NewbornDx™Coverage: 100%
NPC2
severe pulmonary involvement, hypotonia, developmental delay, hepatomegaly, seizures, spasticity, dystonia, cerebellar ataxia, 'sea-blue' histiocytes
NewbornDx™Coverage: 99%
SMPD1
hepatosplenomegaly, failure to thrive, psychomotor regression, interstitial lung disease, cherry-red spot
NewbornDx™Coverage: 100%
Nijmegen breakage syndrome
NBN
progressive microcephaly, short stature, recurrent sinopulmonary infections, increased risk for cancer
NewbornDx™Coverage: 96%
Nocturnal frontal lobe epilepsy
CHRNA4
frequent violent and brief motor seizures occurring at night
NewbornDx™Coverage: 99%
Non-Hodgkin lymphoma
PRF1
proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly
NewbornDx™Coverage: 100%
Non-ketotic hyperglycinemia
AMT
lethargy, hypotonia, myoclonic jerks, seizures
NewbornDx™Coverage: 100%
GCSH
hypotonia, coma, developmental delay, difficult to treat seizures
NewbornDx™Coverage: 80%
GLDC
lethargy, hypotonia, myoclonic jerks, intractable seizures, progressing to apnea, mental retardation
NewbornDx™Coverage: 100%
Non-syndromic hearing loss
ACTG1
hypertelorism, facial dysmorphism, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, pachygyria
NewbornDx™Coverage: 100%
GJB2
sensorineural hearing loss, hyperkeratotic skin lesions, susceptibility to mucocutaneous infections
NewbornDx™Coverage: 100%
MYH9
bilateral SNHL of high frequency, mild bleeding episodes, renal involvement
NewbornDx™Coverage: 100%
PNPT1
choreoathetosis, dyskinesia, nonprogressive encephalopathy, global hypotonia, muscle atrophy
NewbornDx™Coverage: 82%
PRPS1
hyperuricemia, neurodevelopmental abnormalities, sensorineural deafness
NewbornDx™Coverage: 99%
SIX1
hearing loss (SNHL, conductive or mixed), structural anomalies of inner, middle and outer ear (preauricular pits, microtia, cup-shaped ears, malformed or hypoplastic pinnae), branchial fistulas or cysts, no renal anoamlies
NewbornDx™Coverage: 100%
SIX2
colobomas, high myopia
NewbornDx™Coverage: 100%
TBC1D24
microcephaly, coarse facies, sensorineural hearing loss, optic atrophy, small or absent distal phalanges of hands and feet, hypotonia, cerebral atrophy, seizures
NewbornDx™Coverage: 100%
TJP2
intrahepatic cholestasis, liver failure, portal hypertension
NewbornDx™Coverage: 100%
Non-syndromic hydrocephalus
CCDC88C
CSF circulation causing accumulation of ventricular cerebrospinal fluid, progressive ventricular dilatation
NewbornDx™Coverage: 100%
MPDZ
macrocephaly due to communicating hydrocephalus, thinning of the cerebral cortex, simplified gyration pattern, intellectual disability
NewbornDx™Coverage: 99%
Nonautoimmune hyperthyroidism
TSHR
no goiter, normal size thyroid gland, euthyroidism, increased TSH, hypothyroidism
NewbornDx™Coverage: 100%
Nonprogressive heart block
SCN5A
syncope, presyncope, dizziness, fatigue, sinus bradycardia, sinus arrest, sinoatrial block, absent P waves, atrial inexcitability, prolonged QRS duration, prolonged His-ventricle conduction time, ventricular escape rhythms, atrial arrhythmias, intraventricular conduction defects, progressive alteration of cardiac conduction
NewbornDx™Coverage: 100%
Nonspecific cardiac conduction defect
SCN1B
ST segment elevation in the right precordial electrocardiogram leads
NewbornDx™Coverage: 95%
Noonan syndrome
A2ML1
short stature, congenital heart defect, developmental delay, broad or webbed neck, coagulation disorder risk of lymphedema, low-set nipples
NewbornDx™Coverage: 99%
Noonan syndrome
BRAF
cardiac defect, facial dysmorphism, keratosis pilaris, hypotonia, failure to thrive
NewbornDx™Coverage: 97%
Noonan syndrome
KRAS
CFC: Cardiac defect (pulmonic stenosis, ASD, hypertrophic cardiomyopathy), facial dysmorphism (ocular hypertelorism, down-slanting palpebral fissures, ptosis, small chin, coarse facial features), dry rough skin, keratosis pilaris, nevi, hypotonia (during infancy), failure to thrive
NewbornDx™Coverage: 97%
Noonan syndrome
LZTR1
short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, coagulation defects
NewbornDx™Coverage: 100%
Noonan syndrome
NRAS
dysmorphic facial features, short stature, congenital heart defect, broad or webbed neck, widely spaced nipples, cryptorchidism (males), coagulation defect, abnormal pectus
NewbornDx™Coverage: 100%
Noonan syndrome
PTPN11
short stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, apparently low-set nipples, cryptorchidism (males), hypertelorism, low-set ears, coagulation defect, lymphatic dysplasias, unusual facial features
NewbornDx™Coverage: 99%
Noonan syndrome
RAF1
short stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, apparently low-set nipples, cryptorchidism (males), unusual facial features, hypertelorism, low-set ears, coagulation defect, lymphatic dysplasias, lentigines, hypertrophic cardiomyopathy, poor linear growth/short stature, dysmorphic features, variable degress of cognitive defect, skeletal anomalies, SNHL, cafe-au-lait macules
NewbornDx™Coverage: 99%
Noonan syndrome
RASA2
short stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, apparently low-set nipples, cryptorchidism in males, unusual facial features, hypertelorism, low-set ears, coagulation defect
NewbornDx™Coverage: 84%
Noonan syndrome
RIT1
short stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, apparently low-set nipples, cryptorchidism in males, unusual facial features, hypertelorism, low-set ears, coagulation defect, hypertrophic cardiomyopathy, high prevalence of perinatal abnormalities, high birth weight, relative macrocephaly, curly hair, hyperpigmentation, wrinkled palms and soles, lower prevalence of short stature, pectus deformity, intellectual disability
NewbornDx™Coverage: 100%
Noonan syndrome
RRAS
Noshort stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, apparently low-set nipples, cryptorchidism in males, funusual facial features, hypertelorism, low-set ears, coagulation defect
NewbornDx™Coverage: 96%
Noonan syndrome
SOS1
short stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, low-set nipples, cryptorchidism in males, dysmorphic facial features, lymphatic dysplasias
NewbornDx™Coverage: 91%
Noonan syndrome
SOS2
short stature, congenital heart defect, developmental delay, broad or webbed neck, superior pectus carinatum, inferior pectus excavatum, low-set nipples, cryptorchidism in males, dysmorphic facial features, coagulation defect
NewbornDx™Coverage: 97%
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CBL
facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, ectodermal and musculoskeletal anomalies, increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia
NewbornDx™Coverage: 100%
Noonan-like syndrome with loose anagen hair
SHOC2
short stature, macrocephaly, facial dysmorphism, short and webbed neck, congenital heart defect, pectus anomalies, darkly pigmented skin, sparse scalp hair, absent scalp hair, loose anagen hair
NewbornDx™Coverage: 99%
Norrie disease
NDP
retinal fibrous and vascular changes, decreased vision
NewbornDx™Coverage: 98%
O
Obesity
MC4R
severe obesity
NewbornDx™Coverage: 100%
Oculocutaneous albinism
TYR
hypopigmentation of the skin and hair, nystagmus, reduced iris pigment, foval hypopigmentation
NewbornDx™Coverage: 100%
Oculodentodigital dysplasia
GJA1
congestive cardiac failure, atrioventricular canal defect
NewbornDx™Coverage: 100%
Oculofaciocardiodental syndrome
BCOR
OFCD (only in females), cardiac abnormalities, tooth anomaly radiculomegaly, toe anomalies
NewbornDx™Coverage: 100%
Odgen syndrome
NAA10
unilateral or bilateral microphthalmia or anophthalmia, defects in skeletal and genitourinary systems
NewbornDx™Coverage: 97%
Odontoonychodermal dysplasia
WNT10A
dry hair, severe hypodontia, smooth tongue, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, hyperkeratosis of the skin
NewbornDx™Coverage: 100%
Omenn syndrome
RAG1
generalized erythrodermia, lymphadenopathy, alopecia, hepatomegaly, splenomegaly
NewbornDx™Coverage: 100%
Omodysplasia
GPC6
severe congenital micromelia with shortening and distal tapering of the humeri, femora to give a club-like appearance, frontal bossing
NewbornDx™Coverage: 100%
Opitz GBBB syndrome
MID1
ocular hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares, laryngotracheoesophageal defects, genitourinary abnormalities
NewbornDx™Coverage: 98%
SPECC1L
hypertelorism or telecanthus, swallowing difficulty, hoarse cry, genitourinary defects, hypospadias (males), splayed labia majora (females), mental retardation, developmental delay, congenital heart defects
NewbornDx™Coverage: 99%
Opitz-Kaveggia syndrome
MED12
dysmorphic facial features, relative macrocephaly, broad thumbs, hypotonia, constipation, partial agenesis of corpus callosum
NewbornDx™Coverage: 98%
Opsismodysplasia
INPPL1
short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum, death due to respiratory distress, shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping
NewbornDx™Coverage: 96%
Optic atrophy
ACO2
hypotonia, seizures, intellectual disability, retinopathy, failure to thrive, progressive cerebellar, cortical atrophy, hyporeflexia, optic atrophy
NewbornDx™Coverage: 100%
OPA1
bilateral optic nerve pallor, decreased visual acuity, visual field defects, decreased color vision
NewbornDx™Coverage: 87%
OPA3
optic atrophy, nystagmus, strabismus, ataxia, chorea, spasticity, elevated 3-methylglutaconic acid
NewbornDx™Coverage: 100%
TMEM126A
severe bilateral deficiency in visual acuity, optic disc pallor, central scotoma
NewbornDx™Coverage: 95%
Optic nerve hypoplasia and abnormalities of the central nervous system
SOX2
anophthalmia or microphthalmia
NewbornDx™Coverage: 100%
Ornithine aminotransferase deficiency
OAT
chorioretinal degeneration, progressive night blindness and peripheral vision loss, elevated plasma ornithine
NewbornDx™Coverage: 100%
Ornithine transcarbamylase deficiency
OTC
normal at birth, development of poor feeding, acute neonatal encephalopathy with hyperventilation and low body temperature
NewbornDx™Coverage: 97%
Orofacial cleft
BMP4
anophthalmia or microphthalmia, digital anomalies, micrognathia, underdevelopmented external genitalia, developmental delay, growth delay
NewbornDx™Coverage: 100%
Orotic aciduria
UMPS
megaloblastic anemia, normal platelet count, low to normal reticulocyte count, orotic acid crystalluria
NewbornDx™Coverage: 100%
Osteogenesis Imperfecta
BMP1
normal teeth, blue sclerae, bone deformity, recurrent fractures
NewbornDx™Coverage: 100%
COL1A1
irritability, fever, soft tissue swelling, subperiosteal cortical hyperostosis of the diaphyses of the long bones, ribs, scapulea, clavicles, mandible
NewbornDx™Coverage: 99%
COL1A2
skin hyperextensibility, abnormal wound healing, joint hypermobility
NewbornDx™Coverage: 99%
CRTAP
frequent fractures, normal birth length, narrow chest, bluish scleras, respiratory insufficiency, normal hearing, open sutures
NewbornDx™Coverage: 99%
FKBP10
epidermolysis bullosa, absences of dentinogenesis imperfecta, bone fragility and low bone mass, congenital joint contractures
NewbornDx™Coverage: 100%
IFITM5
moderate to severe bone fragility of long bones and vertebral bodies, fractures within first year of life, blue sclerae or dentinogenesis imperfecta absent, characteristic radiography findings: hyperplastic callus formation at fracture sites, calcification of interosseous membrane between the radius and ulna, presence of a radioopaque metaphyseal band adjacent to the growth plate
NewbornDx™Coverage: 100%
P3H1
white sclerae, severe growth deficiency, extreme skeletal undermineralization, bulbous metaphyses
NewbornDx™Coverage: 100%
PPIB
short limb dwarfism, white to gray sclerae, numerous multiple fractures present at birth, bowing of limbs, kyphosis, scoliosis
NewbornDx™Coverage: 100%
SERPINF1
bone fragility, low bone mass, risk of fractures, vertebral compression fractures
NewbornDx™Coverage: 100%
SERPINH1
multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, blue sclera
NewbornDx™Coverage: 100%
SP7
recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, white sclerae
NewbornDx™Coverage: 97%
TMEM38B
fractures, low bone mass, osteopenia, progressive hearing loss
NewbornDx™Coverage: 99%
WNT1
recurrent fractures, bone deformity, significant reduction of bone density, short stature
NewbornDx™Coverage: 100%
Osteopathia striata with cranial sclerosis
AMER1
macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, longitudinal striations visible on radiographs of the long bones
NewbornDx™Coverage: 100%
Osteopetrosis
CLCN7
facial nerve palsy, diffuse symmetrical osterosclerosis, fragile bones, increased rate of bone fractures, pronounced skull base sclerosis, progressive sclerosis
NewbornDx™Coverage: 99%
LRP5
incomplete development of the retinal vasculature, decreased visual acuity
NewbornDx™Coverage: 98%
OSTM1
generalized osteosclerosis, anemia, hepatosplenomegaly
NewbornDx™Coverage: 90%
TCIRG1
dense bone mass
NewbornDx™Coverage: 94%
TNFRSF11A
severe osteoclast-poor osteopetrosis
NewbornDx™Coverage: 96%
TNFSF11
mandibular prognathism, genu valgum, anemia, hepatosplenomegaly
NewbornDx™Coverage: 100%
Osteopetrosis with renal tubular acidosis
CA2
macrocephaly, feeding difficulties, osteopetrosis, renal tubular acidosis, cerebral calcification
NewbornDx™Coverage: 100%
Otospondylomegaepiphyseal dysplasia
COL11A2
short stature, sensorineural hearing loss, no ocular symptoms, cleft palate, Pierre-Robin sequence, epiphyseal dysplasia, vertebral bone abnormalities, short long bones, absent-small capital femoral epiphyses, short hands, short fingers
NewbornDx™Coverage: 99%
P
Pachyonychia congenita
KRT16
hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts
NewbornDx™Coverage: 100%
Paget disease of bone
TNFRSF11B
short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, hyperostosis with progressive hearing loss
NewbornDx™Coverage: 100%
Pallister-Hall syndrome
GLI3
macrocephaly, hypertelorism, polydactyly, cutaneous syndactyl, bifid epiglottis, hypothalamic hamartoma
NewbornDx™Coverage: 100%
Palmoplantar keratoderma
KRT16
hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts
NewbornDx™Coverage: 100%
KRT9
hyperkeratosis on the surface of palms and soles, no follicular or oral lesions
NewbornDx™Coverage: 99%
Pancreatic agenesis
PDX1
IUGR, failure to thrive, pancreatic agenesis or hypoplasia, exocrine pancreatic insufficiency, neonatal insulin-dependent diabetes mellitus
NewbornDx™Coverage: 100%
PTF1A
microcephaly, irregular breathing, episodic apnea, pancreatic agenesis or hypoplasia, seizures, cerebellar hypoplasia or agenesis, neonatal diabete mellitus
NewbornDx™Coverage: 93%
Pancreatic agenesis and congenital heart defects
GATA6
non-syndromic congenital heart defects, atrial septal defect (ASD), Tetralogy of Fallot
NewbornDx™Coverage: 76%
Pancreatic Lipase Deficiency
PNLIP
oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease
NewbornDx™Coverage: 100%
Panhypopituitarism
SOX3
panhypopituitarism, pituary dwarfism
NewbornDx™Coverage: 93%
Paraganglioma with or without deafness
SDHD
progressive encephalomyopathy with dementia, myoclonic seizures, short stature, complete external ophthalmoplegia, pigmentary retinopathy, ataxia
NewbornDx™Coverage: 80%
Paramyotonia congenita
SCN4A
weakness of skeletal muscle, respiratory insufficiency with sudden apnea and cyanosis, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis, arthrogryposis multiplex congenita
NewbornDx™Coverage: 100%
Paroxysmal nonkinesigenic dyskinesia
PNKD
brief, dystonic or choreoathetotic attacks, typically triggered by sudden movements
NewbornDx™Coverage: 100%
Peeling skin syndrome
CHST8
continuous shedding of skin evidenced by generalized white scaling, most prominent over the upper and lower limbs
NewbornDx™Coverage: 100%
TGM5
skinshedding of the outer epidermis
NewbornDx™Coverage: 100%
Pelizaeus-Merzbacher disease
PLP1
nystagmus, spastic quadriplegia, ataxia, developmental delay, progressive lower extremity spasticity (usually severe)
NewbornDx™Coverage: 99%
Pendred syndrome
FOXI1
hearing loss associated with enlarged vestibular aqueduct, goiter
NewbornDx™Coverage: 100%
SLC26A4
congenital neurosensory deafness, cochlear malformation, goiter, thyroid dysfunction
NewbornDx™Coverage: 95%
PEPCK deficiency
PCK2
hypoglycemia, liver failure, fatty deposits in liver and kidneys
NewbornDx™Coverage: 100%
Periventricular heterotopia
ARFGEF2
periventricular nodular heterotopia, microcephaly, seizures, developmental delay, mental retardation, hypotonia
NewbornDx™Coverage: 97%
Periventricular nodular heterotopia
ERMARD
periventricular nodular heterotopia
NewbornDx™Coverage: 99%
FLNA
congenital hypotonia, relative macrocephaly, dysmorphic facies, anal anomalies or severe constipation
NewbornDx™Coverage: 100%
Perlman Syndrome
DIS3L2
large at birth, hypotonic, organomegaly, hydronephrosis, dysmorphic facial features, neurodevelopmental delay, risk of Wilms tumor
NewbornDx™Coverage: 100%
Peroxisomal fatty acyl-CoA reductase disorder
FAR1
severely delayed psychomotor development, growth retardation, microcephaly, seizures
NewbornDx™Coverage: 98%
Peroxisome biogenesis disorder
PEX1
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 97%
PEX10
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 98%
PEX11B
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX12
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX13
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX14
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX16
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX19
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX2
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX26
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX3
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 99%
PEX5
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX6
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX7
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
Perrault syndrome
CLPP
congenital severe to profound sensorineural hearing loss, ovarian dysgenesis, cerebellar ataxia
NewbornDx™Coverage: 100%
HARS2
congenital severe to profound sensorineural hearing loss, premature ovarian failure (POF) secondary to ovarian dysgenesis
NewbornDx™Coverage: 100%
HSD17B4
congenital severe to profound sensorineural hearing loss, premature ovarian failure (POF) secondary to ovarian dysgenesis, normal pubertal development for males
NewbornDx™Coverage: 99%
LARS2
severe to profound congenital sensorineural hearing loss, premature ovarian failure (POF) secondary to ovarian dysgenesis, normal pubertal development for males
NewbornDx™Coverage: 100%
Persistent truncus arteriosus
NKX2-6
congenital heart defect, persistent truncus arteriosus
NewbornDx™Coverage: 100%
Peters plus syndrome
B3GLCT
anterior chamber anomalies, short limbs with broad distal extremities, facial dysmorphism, cleft lip/palate, variable developmental delay/intellectual disability
NewbornDx™Coverage: 95%
Phelan-McDermid syndrome
SHANK3
neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior
NewbornDx™Coverage: 91%
Phenylketonuria
PAH
classic PKU without treatment, permanent developmental delay, seizures, developmental delay, mouse or musky-like odor, eczema, psychiatric disorders, mild intellectual disability (treated PKU)
NewbornDx™Coverage: 100%
Pheochromocytoma
RET
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, identifiable brainstem lesion
NewbornDx™Coverage: 100%
SDHD
progressive encephalomyopathy with dementia, myoclonic seizures, short stature, complete external ophthalmoplegia, pigmentary retinopathy, ataxia
NewbornDx™Coverage: 80%
Phosphoglycerate dehydrogenase deficiency
PHGDH
postnatal growth retardation, congenital microcephaly, hypogonadism, hypertonia, profound psychomotor retardation and epilepsy, dysmyelination
NewbornDx™Coverage: 100%
Phosphoglycerate kinase deficiency
PGK1
hemolytic anemia, myopathy, recurrent myoglobinuria, developmental delay (some cases), liver dysfunction (some cases), severe encephalopathy (2 cases)
NewbornDx™Coverage: 100%
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
hyperuricemia, neurodevelopmental abnormalities, sensorineural deafness
NewbornDx™Coverage: 99%
Phosphorylase kinase deficiency of liver and muscle
PHKB
postnatal onset of short stature, hepatmegaly, diarrhea, hypotonia, mild weakness
NewbornDx™Coverage: 98%
Phosphoserine aminotransferase deficiency
PSAT1
microcephaly, sloping forehead, low-set or malformed ears, flat or abnormal nose, micrognathia, abnormal round and gaping mouth, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, edema of the hands and feet
NewbornDx™Coverage: 100%
Phosphoserine phosphatase deficiency
PSPH
developmental delay, intellectual disability, cerebral atrophy, hypertonia, poor growth (1 case), microcephaly (rare)
NewbornDx™Coverage: 100%
Piebaldism/Waardenburg syndrome
SNAI2
absent pigmentation of medial forehead and eyebrows, white forelock, hyperpigmented borders, heterochromia irides
NewbornDx™Coverage: 100%
Pierson syndrome
LAMB2
congenital nephrotic syndrome, microcoria and hypoplasia of the ciliary and pupillary muscles
NewbornDx™Coverage: 100%
Pitt-Hopkins syndrome
NRXN1
facial dysmorphism, developmental delay/intellectual disability, episodic hyperventilation and/or breath-holding while awake
NewbornDx™Coverage: 99%
TCF4
microcephaly, dysmorphic features, hyperventilation, constipation, hypotonia, severe intellectual disability, ataxia, seizures, hypotonia, happy personality, sterotypical movements, myopia, short stature, cryptorchidism
NewbornDx™Coverage: 96%
Pitt-Hopkins-like syndrome
CNTNAP2
severe mental retardation, coarse facial features, short stature, seizures, hypertrichosis, short great toes, breathing abnormalities
NewbornDx™Coverage: 100%
Platelet-type bleeding disorder
GP6
mild-to-moderate bleeding disorder, easy bruising, failure of platelet activation
NewbornDx™Coverage: 93%
ITGA2B
failure of platelet aggregation, episodic mucocutaneous bleeding and unprovoked bruising, intracranial bleeding, petechiae, prolonged bleeding
NewbornDx™Coverage: 100%
ITGB3
failure of platelet aggregation, episodic mucocutaneous bleeding and unprovoked bruising, intracranial bleeding, petechiae, prolonged bleeding
NewbornDx™Coverage: 97%
RASGRP2
mucocutaneous bleeding (starts at 18 months), epistaxis, hematomas, bleeding after tooth extraction, menorrhagia
NewbornDx™Coverage: 99%
Platyspondylic lethal skeletal dysplasia
COL2A1
short arms and legs, underdeveloped pelvic bones, flattened spinal bones, short fingers and toes, small chest with short ribs
NewbornDx™Coverage: 100%
Poikiloderma with neutropenia
USB1
papular erythematous rash, hypo- and hyperpigmentation result, development of telangiectasias
NewbornDx™Coverage: 100%
Polycystic kidney disease
PKD2
bilateral renal cysts, cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane, vascular abnormalities including intracranial aneurysms, dilatation of the aortic root, dissection of the thoracic aorta, mitral valve prolapse, abdominal wall hernias, hypertension, renal pain, renal insufficiency, ESRD by age 60
NewbornDx™Coverage: 83%
PKHD1
hepatomegaly, splenomegaly, present in neonatal period with enlarged echogenic kidneys, nephromegaly, hypertension, progressive periportal fibrosis
NewbornDx™Coverage: 100%
Polyglucosan body myopathy with or without immunodeficiency
RBCK1
progressive proximal leg muscle weakness, difficulty walking, progressive dilated cardiomyopathy, recurrent infections, immunodeficiency, hyperinflammatory state in very early childhood
NewbornDx™Coverage: 99%
Polymicrogyria
TUBA8
severe developmental delay, hypotonia, seizures, optic nerve hypoplasia, extensive polymicrogyria with dysplastic or absent corpus callosum, colpocephaly
NewbornDx™Coverage: 100%
TUBB2B
spectrum of brain abnormalities including microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, severely hypoplastic brainstem and cerebellum, lissencephaly, polymicrogyria, cortical dysplasia, neuronal heterotopia
NewbornDx™Coverage: 100%
Pontocerebellar hypoplasia
AMPD2
progressive microcephaly, spasticity, seizures, and brain atrophy, thin corpus callosum, delayed myelination
NewbornDx™Coverage: 100%
CHMP1A
microcephaly, poor postnatal growth, severe psychomotor retardation, spasticity, choreiform movement, hypotonia, brain malformations
NewbornDx™Coverage: 100%
CLP1
severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, brain atrophy, delayed myelination, structural brain malformation
NewbornDx™Coverage: 100%
EXOSC3
cerebellar and spinal motor neuron degeneration beginning at birth, progressive microcephaly, diffuse muscle weakness, global developmental delay
NewbornDx™Coverage: 100%
RARS2
abnormally small cerebellum and brainstem, severe developmental delay
NewbornDx™Coverage: 94%
SEPSECS
progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, variable seizures
NewbornDx™Coverage: 97%
TSEN2
congenital microcephaly, dyskinesia, chorea, epilepsy
NewbornDx™Coverage: 98%
TSEN34
congenital microcephaly, dyskinesia, chorea, epilepsy
NewbornDx™Coverage: 100%
TSEN54
small cerebellum and brainstem, progressive microcephaly, dyskinesia, chorea, epilepsy
NewbornDx™Coverage: 96%
VPS53
profound mental retardation, hypotonia, progressive microcephaly, spasticity, epilepsy
NewbornDx™Coverage: 100%
VRK1
anterior horn cell degeneration, abnormal growth and function of the brainstem and cerebellum, little or no development
NewbornDx™Coverage: 98%
Popliteal pterygium syndrome
IRF6
lower lip pits, cleft lip, cleft palate, hypodontia, congenital ankyloblepharon filiforme, external genital abnormalities, internal genital abnormalities, popliteal pterygium, pyramidal skinfold of halluces
NewbornDx™Coverage: 100%
RIPK4
multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, syndactyly
NewbornDx™Coverage: 100%
Porphyria
ALAD
recurrent attacks of pain, vomiting, hyponatremia, and symptoms of polyneuropathy
NewbornDx™Coverage: 99%
ALAS2
hypochromic microcytic anemia, marrow ringed sideroblasts
NewbornDx™Coverage: 100%
UROD
excretion of large amounts of uroporphyrin, liver disease, photosensitivity, blisters in sun-exposed areas, fingernail onycholsis, facial hypertrichosis, alopecia
NewbornDx™Coverage: 100%
Postaxial polydactyly
ZNF141
unilateral or bilateral post-axial polydactyly, non-syndromic
NewbornDx™Coverage: 99%
Prader-Willi syndrome
SNRPN
hypotonia, feeding difficulties, obesity, motor and language delay, hypogonadism, genital hypoplasia
NewbornDx™Coverage: 100%
Prader-Willi-like Syndrome
MAGEL2
neonatal hypotonia with poor suck, feeding problems in infancy, hyperphagia with excessive weight gain before age 6, developmental delay, hypogonadism
NewbornDx™Coverage: 99%
Primary aldosteronism, seizures, and neurologic abnormalities
CACNA1D
high aldosterone levels, seizures, cerebral palsy, spasticity, intellectual disability, developmental delay
NewbornDx™Coverage: 100%
Primary ciliary dyskinesia
ARMC4
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 95%
Primary hyperoxaluria
AGXT
accumulation of calcium oxalate in kidney resulting in renal failure, hyperoxaluria, heart block, choroidal neovascularization
NewbornDx™Coverage: 92%
GRHPR
calcium oxalate urolithiasis, nephrocalcinosis, hematuria, elevated urinary oxylate and L-glycerate
NewbornDx™Coverage: 100%
Primary microcephaly
ASPM
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 97%
CASC5
microcephaly and the absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 92%
CDK5RAP2
microcephaly, cognitive impairment
NewbornDx™Coverage: 99%
CDK6
microcephaly, cognitive impairment
NewbornDx™Coverage: 100%
CENPJ
microcephaly, cognitive impairment
NewbornDx™Coverage: 100%
CEP135
microcephaly, cognitive impairment
NewbornDx™Coverage: 79%
CEP152
microcephaly, cognitive impairment
NewbornDx™Coverage: 98%
MCPH1
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 98%
STIL
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 99%
WDR62
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 100%
ZNF335
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 100%
Primary progressive aphasia
GRN
rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, cerebellar atrophy
NewbornDx™Coverage: 100%
Primary pulmonary arterial hypertension
BMPR2
dyspnea, fatigue, heart palpitation, syncope, cardiac murmur
NewbornDx™Coverage: 100%
CAV1
lipodystrophy, pulmonary hypertension
NewbornDx™Coverage: 100%
KCNK3
pulmonary artery pressure in the absence of common causes of pulmonary hypertension
NewbornDx™Coverage: 100%
SMAD9
pulmonary artery hypertension, progressive, incomplete penetrance
NewbornDx™Coverage: 100%
Progressive external ophthalmoplegia
DNA2
external ophthalmoplegia, mild limb-girdle muscle weakness, mild ptosis, facial muscle weakness, myalgia, exertional dyspnea, elevated CK
NewbornDx™Coverage: 98%
POLG2
weakness of external eye muscles, delayed psychomotor development, lactic acidosis, constipation, and liver involvement
NewbornDx™Coverage: 98%
SLC25A4
progressive hypertrophic cardiomyopathy, generalized skeletal myopathy
NewbornDx™Coverage: 100%
Progressive familial intrahepatic cholestasis
ABCB11
short stature, failure to thrive, intrahepatic cholestasis, hepatomegaly, splenomegaly, jaundice, diarrhea, malabsorption of fat, conjugated hyperbilirubinemia
NewbornDx™Coverage: 99%
ABCB4
intrahepatic cholestasis, jaundice, hepatomegaly, cirrhosis, splenomegaly, diarrhea
NewbornDx™Coverage: 96%
ATP8B1
jaundice, failure to thrive, hemorrhage, cirrhosis, end-stage liver disease
NewbornDx™Coverage: 99%
Progressive familial intrahepatic cholestasis
TJP2
intrahepatic cholestasis, liver failure, portal hypertension
NewbornDx™Coverage: 100%
Progressive familial intrahepatic cholestasis
TJP2
intrahepatic cholestasis, liver failure, portal hypertension
NewbornDx™Coverage: 100%
Progressive leukoencephalopathy
AARS2
infantile hypertrophic cardiomyopathy, failure to thrive, generalized muscle weakness, lactic acidosis
NewbornDx™Coverage: 100%
Progressive microcephaly with seizures and brain atrophy
MED17
postnatal progressive microcephaly, cerebral and cerebellar atrophy, swallowing difficulties, jitteriness, poor visual fixation and lack of tracking, truncal arching, seizures, muscle tone, clonus, hyperreflexia
NewbornDx™Coverage: 100%
Progressive myoclonic epilepsy
EPM2A
progressive neurodegeneration, progressive myoclonic epilepsy, mental deterioration, gait disturbances
NewbornDx™Coverage: 95%
KCTD7
intractable myoclonic seizures, developmental regression
NewbornDx™Coverage: 100%
NHLRC1
progressive myoclonic epilepsy, myoclonic jerks, progressive cognitive decline, vision loss, dysarthria, dementia
NewbornDx™Coverage: 100%
PRICKLE1
progressive myoclonic epilepsy, motor delay, ataxia before onset of seizures, normal cognition, tremors
NewbornDx™Coverage: 100%
Progressive neonatal encephalopathy
ADSL
fatal neonatal encephalopathy, childhood form (type I) with severe psychomotor retardation, milder form (type II) with psychomotor retardation or hypotonia
NewbornDx™Coverage: 100%
Progressive osseous heteroplasia
GNAS
cafe-au-lait macules, fibrous dysplasia, endocrinopathies, Neonatal hypercortisolism, craniofacial abnormalities
NewbornDx™Coverage: 98%
Prolidase deficiency
PEPD
chronic, slowly healing ulcerations, mainly on the legs and feet, skin findings can include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules, mild to severe mental retardation, recurrent respiratory infections, facial dysmorphism
NewbornDx™Coverage: 99%
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
FLVCR2
hydranencephaly, diffuse ischemic lesions of the brain stem, basal ganglia, spinal cord with calcifications
NewbornDx™Coverage: 100%
Proopiomelanocortin deficiency
POMC
normal birth weight, excessive weight gain and obesity by age 1, hyperphagia, low levels of ACTH, hypoglycemia, hyperbilirubinemia
NewbornDx™Coverage: 100%
Propionic acidemia
PCCA
episodic vomiting, lethargy, ketosis, neutropenia, periodic thrombocytopenia, developmental retardation, intolerance to protein, hypotonia, dystonia, cerebral atrophy, seizures, short stature, failure to thrive
NewbornDx™Coverage: 96%
PCCB
episodic vomiting, lethargy, ketosis, neutropenia, periodic thrombocytopenia, developmental retardation, intolerance to protein, hypotonia, dystonia, cerebral atrophy, seizures, short stature, failure to thrive
NewbornDx™Coverage: 99%
Proteus syndrome
PTEN
Cowden syndrome (macrocephaly, trichilemmomas, papillomatous papules, risk of benign and malignant tumors), Bannayan-Riley-Ruvalcaba syndrome (macrocephaly, intestinal hamartomatous polyposis, lipomas, pigmented macules of the glans penis), Proteus syndrome (hamartomatous overgrowth of multiple tissues, connective tissue nevi, epidermal nevi, hyperostoses), Proteus-like syndrome
NewbornDx™Coverage: 95%
Proximal myopathy and ophthalmoplegia
MYH2
muscle weakness of upper and lower limbs, weak facial muscles, external ophthalmoplegia, contractures
NewbornDx™Coverage: 100%
Pseudo-neonatal adrenoleukodystrophy
ACOX1
hypotonia, seizures, apneic spells, delayed psychomotor development, and neurologic regression, dysmorphic facial features, decreased vision
NewbornDx™Coverage: 100%
Pseudo-von Willebrand disease, platelet-type
GP1BA
moderate bleeding tendency, easy bruising, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 99%
Pseudohypoaldosteronism
NR3C2
neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels
NewbornDx™Coverage: 100%
SCNN1A
renal salt wasting, high concentrations of sodium in sweat, stool, and saliva
NewbornDx™Coverage: 100%
SCNN1B
renal salt wasting, high concentrations of sodium in sweat, stool, and saliva
NewbornDx™Coverage: 100%
SCNN1G
renal salt wasting, high concentrations of sodium in sweat, stool, and saliva
NewbornDx™Coverage: 100%
Pseudohypoaldosteronism
WNK1
impaired sensation in distal extremities, hyporeflexia, hypotonia, areflexia, joint degeneration, GE reflux, acroosteolysis, impaired corneal reflex
NewbornDx™Coverage: 100%
Pseudohypoparathyroidism
GNAS
cafe-au-lait macules, fibrous dysplasia, endocrinopathies, Neonatal hypercortisolism, craniofacial abnormalities
NewbornDx™Coverage: 98%
Psoriasis
IL20RA
extra skin cells form thick, silvery scales and itchy, dry, red patches
NewbornDx™Coverage: 94%
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SNIP1
severe psychomotor retardation, intractable seizures, dysmorphic facial features, a 'lumpy' skull surface, hypotonia, poor feeding, nystagmus, absent tendon reflexes
NewbornDx™Coverage: 100%
PTEN-related cardiovascular disease
PTEN
Cowden syndrome (macrocephaly, trichilemmomas, papillomatous papules, risk of benign and malignant tumors), Bannayan-Riley-Ruvalcaba syndrome (macrocephaly, intestinal hamartomatous polyposis, lipomas, pigmented macules of the glans penis), Proteus syndrome (hamartomatous overgrowth of multiple tissues, connective tissue nevi, epidermal nevi, hyperostoses), Proteus-like syndrome
NewbornDx™Coverage: 95%
Pulmonary surfactant metabolism dysfunction
ABCA3
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli, interstitial thickening, radiograph shows granular, hazy, ground-glass interstitial opacifications
NewbornDx™Coverage: 100%
ACADL
respiratory distress leading to sudden death
NewbornDx™Coverage: 99%
SFTPB
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli
NewbornDx™Coverage: 95%
SFTPC
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli
NewbornDx™Coverage: 100%
SFTPD
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli
NewbornDx™Coverage: 100%
Pulmonary venoocclusive disease
EIF2AK4
pulmonary arterial hypertension, dyspnea, lymph node enlargement, spetal lines, ground-glass opacities
NewbornDx™Coverage: 99%
Pycnodysostosis
CTSK
skull deformity, bone fragility
NewbornDx™Coverage: 100%
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
PSTPIP1
intermittent sterile pauciarticular peripheral erosive arthritis, pyoderma gangrenosum, severe cystic acne, IBS
NewbornDx™Coverage: 99%
Pyridoxamine 5-prime-phosphate oxidase deficiency
PNPO
failure to thrive, progressive microcephaly, feeding problems, seizures, hypotonia, anemia, hypoglycemia, acidosis, myoclonus, born prematurely
NewbornDx™Coverage: 100%
Pyridoxine-dependent Epilepsy
ALDH7A1
neonatal seizures, hypotonia, neonatal respiratory distress, intellectual disability
NewbornDx™Coverage: 98%
Pyruvate carboxylase deficiency
PC
lactic acidosis, hypotonia, severe developmental delay, proximal renal acidosis
NewbornDx™Coverage: 100%
Pyruvate dehydrogenase deficiency
DLAT
lactic acidosis, hypotonia, lethargy, seizures, microcephaly, ataxia, developmental delay
NewbornDx™Coverage: 99%
Pyruvate dehydrogenase E1-subunit deficiency
PDHA1
lactic acidosis, hypotonia, lethargy, seizures, microcephaly, ataxia, developmental delay
NewbornDx™Coverage: 92%
PDHB
lactic acidosis, hypotonia, severe breathing problems, developmental delay, seizures
NewbornDx™Coverage: 100%
Pyruvate dehydrogenase E3-binding protein deficiency
PDHX
lactic acidosis, hypotonia, microcephaly, dysmorphic features, developmental delay, optic atrophy
NewbornDx™Coverage: 99%
Pyruvate dehydrogenase lipoic acid synthetase deficiency
LIAS
microcephaly, seizures, hypotonia, poor feeding, lactic acidosis, seizures, respiratory distress, hypertrophic cardiomyopathy, developmental and motor delay
NewbornDx™Coverage: 90%
Pyruvate dehydrogenase phosphatase deficiency
PDP1
lactic acidosis, hypotonia, respiratory distress, basal ganglia changes (Leigh syndrome)
NewbornDx™Coverage: 100%
Pyruvate kinase deficiency
PKLR
cholelithiasis, jaundice, chronic hemolytic anemia
NewbornDx™Coverage: 100%
R
Raine syndrome
FAM20C
neonatal osteosclerotic bone dysplasia
NewbornDx™Coverage: 96%
Recurrent infections with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations
FADD
recurrent infections, encephalopathy, liver dysfunction, elevated transaminases without cholestasis, cardiovascular malformations
NewbornDx™Coverage: 100%
Recurrent isolated invasive pneumococcal disease
IRAK4
recurrent infections, gram-positive Streptococcus pneumoniae and Staphylococcus aureus
NewbornDx™Coverage: 92%
Refsum disease
PHYH
anosmia, retinitis pigmentosa. Variable: neuropathy, deafness, ataxia, and ichthyosis. Onset infancy to adulthood. Risk of cardiac arrhythmia and heart failure
NewbornDx™Coverage: 95%
Renal agenesis
RET
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, identifiable brainstem lesion
NewbornDx™Coverage: 100%
Renal coloboma syndrome
PAX2
renal hypodysplasia, abnormalities of optic nerve
NewbornDx™Coverage: 98%
Renal cysts and diabetes syndrome
HNF1B
nondiabetic renal disease resulting from abnormal renal development, diabetes
NewbornDx™Coverage: 100%
Renal hypodysplasia
PAX2
renal hypodysplasia, abnormalities of optic nerve
NewbornDx™Coverage: 98%
Renal tubular acidosis, proximal, with ocular abnormalities
SLC4A4
proximal renal tubular acidosis, renal bicarbonate, wasting, eye abnormalities, growth retardation, hyperchloremic acidosis
NewbornDx™Coverage: 99%
Renal-hepatic-pancreatic dysplasia
NPHP3
cystic kidney disease, renal failure, anemia, polyuria, polydipsia, isosthenuria
NewbornDx™Coverage: 97%
Renpenning syndrome
PQBP1
microcephaly, short stature, small testes, dysmorphic facies
NewbornDx™Coverage: 100%
Resistance to insulin-like growth factor I
IGF1R
short stature, low birth weight, poor growth, microcephaly, delayed bone age, clinodactyly, delayed motor development, wide-spaced nipples, pectus excavatum
NewbornDx™Coverage: 100%
Respiratory distress syndrome in premature infants
SFTPD
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli
NewbornDx™Coverage: 100%
Reticular dysgenesis
AK2
congenital agranulocytosis, absent cellular immunity
NewbornDx™Coverage: 100%
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
IGFBP7
multiple retinal arterial macroaneurysm, pulmonic stenosis
NewbornDx™Coverage: 82%
Retinal degeneration
ABCA4
decreased vision
NewbornDx™Coverage: 100%
Retinitis pigmentosa
HGSNAT
mild coarse facies, hearing loss, clear cornea, retinal degeneration, asymmetric septal hypertrophy, thickened ribs, hepatomegaly, splenomegaly, diarrhea, dysostosis multiplex, kyphoscoliosis, mental retardation
NewbornDx™Coverage: 94%
IMPDH1
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 96%
Rett syndrome
MECP2
arrested development between 6 and 18 months of age, microcephaly, seizures, ataxia, dystonia, sleep disturbance, breath holding, small feet, short stature, constipation
NewbornDx™Coverage: 97%
Rhizomelic chondrodysplasia
PEX7
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
Rhizomelic chondrodysplasia punctata
AGPS
disproportionately short stature, congenital contractures, severe mental retardation with spasticity
NewbornDx™Coverage: 93%
GNPAT
disproportionately short stature, congenital contractures, spasticity, facial dysmorphism
NewbornDx™Coverage: 98%
Riboflavin deficiency
SLC52A1
poor suck, hypoglycemia, metabolic acidosis
NewbornDx™Coverage: 100%
Rickets
CYP27B1
failure to thrive, frontal bossing, enamal hypoplasia, increased fractures, bone pain, lower limb deformities, hypotonia, difficulty walking, seizures, irritability
NewbornDx™Coverage: 100%
CYP2R1
rickets with normal vitamin D exposure, low normal serum calcium levels, low serum phosphate levels, elevated serum alkaline phosphatase levels
NewbornDx™Coverage: 100%
VDR
failure to thrive, poor growth, delayed tooth eruption, enamal hypoplasia, deformed rib cage, rickets, increased fractures, bone pain, delayed opacification of epiphyses, bowing of legs, low limb deformities, alopecia, hypotonia, muscle weakness, seizures, hyperparathyroidism
NewbornDx™Coverage: 100%
Right atrial isomerism
GDF1
congenital heart defects
NewbornDx™Coverage: 77%
Rigidity and multifocal seizures syndrome
BRAT1
microcephaly, skulll abnormalities, focal jerks of the tongue, face and arms
NewbornDx™Coverage: 99%
Ritscher-Schinzel syndrome
CCDC22
intellectual disability, posterior fossa defects, cardiac malformations, distal extremities abnormalities
NewbornDx™Coverage: 97%
KIAA0196
macrocephaly, facial dysmorphism, cardiac defect (septal defects and aortic stenosis), brain malformations, severe developmental delay
NewbornDx™Coverage: 98%
Roberts syndrome
ESCO2
short arm and leg bones, contractures, micrognathia, hypertelorism, microcephaly
NewbornDx™Coverage: 91%
Robinow syndrome
ROR2
frontal bossing, hypertelorism, broad nose, short-limbed dwarfism, vertebral segmentation, genital hypoplasia
NewbornDx™Coverage: 100%
WNT5A
dysmorphic facial, mesomelic limb shortening, hypoplastic external genitalia (males), renal abnormalities, vertebral anomalies
NewbornDx™Coverage: 100%
Rolandic epilepsy, mental retardation, and speech dyspraxia
SRPX2
oral and speech dyspraxia, rolandic seizures, mental retardation
NewbornDx™Coverage: 100%
Romano-Ward syndrome
KCNE1
abnormal cardiac ventricular repolarization with prolonged QT interval, bilateral congenital hearing loss
NewbornDx™Coverage: 100%
Rothmund-Thomson syndrome
RECQL4
skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, increased risk of malignant disease
NewbornDx™Coverage: 99%
Rubenstein-Taybi Syndrome
CREBBP
mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, dysmorphic facial features
NewbornDx™Coverage: 99%
Rubinstein-Taybi syndrome
EP300
broad and often angulated thumbs and great toes, short stature, moderate to severe intellectual disability
NewbornDx™Coverage: 99%
S
Saethre-Chotzen syndrome
FGFR2
turribrachycephalic skull shape, moderate-to-severe midface hypoplasia, syndactyly of fingers
NewbornDx™Coverage: 100%
TWIST1
craniosynostosis, low frontal hairline, ptosis, strabismus, facial asymmetry, small ears with a prominent crus, brachydactyly, partial cutaneous syndactyly of the second and third digits of the hand
NewbornDx™Coverage: 74%
Sandhoff disease
HEXB
muscles weakness, developmental regression, exaggerated startle reaction to loud noises, seizures, vision loss, cherry red spots, organomegaly, doll-like facies, chronic diarrhea
NewbornDx™Coverage: 95%
SC phocomelia syndrome
ESCO2
short arm and leg bones, contractures, micrognathia, hypertelorism, microcephaly
NewbornDx™Coverage: 91%
Scalp-ear-nipple syndrome
KCTD1
aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, external ear anomalies, nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, renal malformations
NewbornDx™Coverage: 90%
Schimke immunoosseous dysplasia
SMARCAL1
spondyloepiphyseal dysplasia, numerous lentigines, progressive immune defect, immune-complex nephritis leading to death
NewbornDx™Coverage: 100%
Schindler disease
NAGA
lysosomal storage disorder (including infantile onset)
NewbornDx™Coverage: 99%
Schinzel-Giedion midface retraction syndrome
SETBP1
severe mental retardation, distinctive facial features, congenital heart defect, hydronephrosis, clubfeet, hypertrichosis, skeletal anomalies including sclerotic, occipotal synchondrosis, abnormal clavicles, hypoplastic distal phalanges
NewbornDx™Coverage: 99%
Schizencephaly
EML1
atypical heterotopia, epilepsy, intellectual disability
NewbornDx™Coverage: 97%
EMX2
full-thickness cleft within the cerebral hemispheres
NewbornDx™Coverage: 100%
Schneckenbecken dysplasia
SLC35D1
lethal short-limbed skeletal dysplasia with platyspondylia
NewbornDx™Coverage: 83%
Schopf-Schulz-Passarge syndrome
WNT10A
dry hair, severe hypodontia, smooth tongue, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, hyperkeratosis of the skin
NewbornDx™Coverage: 100%
Schuss-Hoeijmakers syndrome
PACS1
facial dysmorphism, mild-to-moderate intellectual disability, hypotonia, congenital anomalies including cardiac defect, coloboma, motor delay, brain malformations, cryptorchidism
NewbornDx™Coverage: 96%
Schwartz-Jampel syndrome
HSPG2
short stature, pectus carinatum, umbilical hernia, small testes, myotonic myopathy, joint contractures, blepharophimosis, external genital abnormalities
NewbornDx™Coverage: 99%
Scott syndrome
ANO6
platelet receptor deficiency, prothrombin activation deficiency, factor X activation deficiency
NewbornDx™Coverage: 93%
Sebastian syndrome
MYH9
bilateral SNHL of high frequency, mild bleeding episodes, renal involvement
NewbornDx™Coverage: 100%
Seckel syndrome
ATR
microcephaly, short stature, pre- and post-natal growth retardation, micrognathia, seizures, intellectual disability, dysmorphic facial features
NewbornDx™Coverage: 97%
CENPJ
microcephaly, cognitive impairment
NewbornDx™Coverage: 100%
CEP63
microcephaly, cognitive impairment
NewbornDx™Coverage: 79%
NIN
severe pre- and postnatal growth retardation, microcephaly, developmental delay, short stature, congenital bilateral hip dysplasia, seizures, lack of genital anormalies
NewbornDx™Coverage: 97%
RBBP8
proportionate short stature at birth, low birth weight, persistent growth deficiency, microcephaly, micrognathia, microphthalmia, microglossia, prominent nose, slender limbs, cafe-au-lait spots, mild cerebellar hypoplasia, mild global developmental delay, bilateral calcification of basal ganglia and cerebellum, high pitched-voice, 5th finger clinodactyly
NewbornDx™Coverage: 92%
Segawa Syndrome
TH
dystonia
NewbornDx™Coverage: 95%
Sengers syndrome
AGK
congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, lactic acidosis, normal intelligence
NewbornDx™Coverage: 100%
Senior-Loken syndrome
CEP290
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 85%
IQCB1
nystagmus, poor fixation, severe vision impairment, renal disease
NewbornDx™Coverage: 97%
NPHP4
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
SDCCAG8
end-stage renal disease, obesity, short stature, mild cognitive impairment, retinal degeneration
NewbornDx™Coverage: 89%
WDR19
end stage renal failure, small kidneys, interstitial fibrosis
NewbornDx™Coverage: 93%
Senior-Loken syndrome
NPHP1
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 97%
Sensorineural deafness with mild renal dysfunction
BSND
failure to thrive, sensorineural hearing loss, chronic renal failure, hypotonia, delayed motor development, intellectual disability
NewbornDx™Coverage: 100%
Septo-optic dysplasia
HESX1
optic nerve hypoplasia, CNS anomalies (absent septum pellucidum, absent corpus callosum, midline forebrain defects, intellectual disability), neonatal hypoglycemia (some cases), hypoplasia of anterior pituitary, ectopic or absent posterior pituitary
NewbornDx™Coverage: 100%
Serum retinoic acid, neuroblastoma
ALDH1A2
prognostic role in gastric cancer
NewbornDx™Coverage: 100%
SESAME syndrome
KCNJ10
SNHL, seizures, psychomotor delay, intellectual disability, ataxia, hypotonia, electrolyte imbalance, enlarged vestibular aqueduct
NewbornDx™Coverage: 100%
Severe combined immunodeficiency
ADA
recurrent infections, hepatosplenomegaly, progressive pulmonary insufficiency
NewbornDx™Coverage: 100%
CD3D
chronic diarrhea, recurrent respiratory infections, failure to thrive
NewbornDx™Coverage: 100%
CD3E
mild immunodeficiency and severe combined immunodeficiency (SCID), recurrent infections, T cell-negative, B cell-positive, natural killer (NK) cell-positive
NewbornDx™Coverage: 100%
DCLRE1C
oral thrush, diarrhea, failure to thrive, lymphopenia and hypogammaglobulinemia, reduced/absent CD3+ T cells
NewbornDx™Coverage: 99%
IL2RG
recurrent bacterial and viral infections, atrophy of the thymus, recurrent ear and respiratory infections
NewbornDx™Coverage: 99%
IL7R
failure to thrive secondary to infection, recurrent infections, hepatomegaly, splenomegaly, diarrhea, normal or elevated numbers of functional natural, killer cells
NewbornDx™Coverage: 97%
JAK3
failure to thrive, recurrent upper respiratory tract infections, diarrhea, panhypogammaglobulinemia
NewbornDx™Coverage: 100%
LIG4
microcephaly, growth and/or developmental delay, pancytopenia, various skin abnormalities
NewbornDx™Coverage: 100%
PTPRC
recurrent otitis media resistant to treatment, persistent oral moniliasis, diarrhea, fevers, poor growth, fever, rash, hepatosplenomegaly, lymphadenopathy, pneumonitis, pancytopenia, absence of serum Ig
NewbornDx™Coverage: 89%
RAG1
generalized erythrodermia, lymphadenopathy, alopecia, hepatomegaly, splenomegaly
NewbornDx™Coverage: 100%
RAG2
agammaglobulinemia, absence or decreased numbers of lymphocytes, small thymus or thymic dysplasia, persistent diarrhea, candidiasis, lung infections, fever, opportunistic infections, generalized erythrodermia, lymphadenopathy, alopecia, hepatomegaly, splenomegaly
NewbornDx™Coverage: 100%
ZAP70
inflammatory colitis, skin blistering, bullous pemphigoid, autoimmune hypothyroidism, autoantibody production
NewbornDx™Coverage: 100%
Severe congenital neutropenia
ELANE
severe congenital neutropenia
NewbornDx™Coverage: 100%
GFI1
neutrophil count of zero, marked monocytosis, recurrent infections, normal T and B lymphocyte
NewbornDx™Coverage: 100%
HAX1
neutropenia, recurrent bacterial infection, increased risk of myelodysplastic syndromes, risk of leukemia
NewbornDx™Coverage: 100%
JAGN1
recurrent bacterial infections of the upper and lower respiratory tract and skin, skin abscesses, neutropenia
NewbornDx™Coverage: 100%
VPS45
neutropenia, neutrophil dysfunction, recurrent infections, bone marrow fibrosis, renal extramedullary hematopoiesis
NewbornDx™Coverage: 91%
WAS
decreased numbers of platelets, bleeding tendency
NewbornDx™Coverage: 95%
Severe orofacial dyspraxia
FOXP2
incomprehensible speech, abnormal speech
NewbornDx™Coverage: 99%
Short chain acyl-CoA dehydrogenase deficiency
ACADS
metabolic acidosis, failure to thrive, poor feeding, vomiting, muscle weakness, developmental delay, seizures, microcephaly
NewbornDx™Coverage: 100%
Short stature with nonspecific skeletal abnormalities
NPR2
severe dwarfism, dolichocephalic, short truck, decreased vertebral height, narrowing of the lumbar interpedicular distances
NewbornDx™Coverage: 100%
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
POC1A
short stature, relative macrocephaly in childhood and microcephaly in adulthood, clinodactyly, brachydactyly, hypoplastic distal phalanges and fingernails, facial dysmorphism (long, triangular face with prominent nose and small ears), unusual high-pitched voice, short and thick long bones with mild irregular metaphyseal changes, short femoral necks, hypoplastic pelvis and sacrum, long bones of the hand are short, major delay of carpal ossification, cone-shaped epiphyses, delayed vertebral body ossification
NewbornDx™Coverage: 100%
SHORT syndrome
PIK3R1
recurrent respiratory infections, hypogammaglobulinemia
NewbornDx™Coverage: 94%
Short-rib thoracic dysplasia
DYNC2H1
constricted thoracic cage, short ribs, shortened tubular bones, 'trident' appearance of the acetabular roof
NewbornDx™Coverage: 91%
IFT140
short stature, retinal degeneration, renal failure, nephronophthisis, small femoral capital epiphyses, flattened femoral epiphyses, short fingers
NewbornDx™Coverage: 100%
IFT80
constricted thoracic cage, short ribs, shortened tubular bones, 'trident' appearance of the acetabular roof, no reported internal organ anomalies
NewbornDx™Coverage: 91%
NEK1
disproportionate dwarfism, cleft lip, cleft palate, pulmonary hypoplasia, abnormal ribs, handlebar clavicles, ambiguous genitalia, polycystic kidneys, post or pre axial polydactyly, short long bones
NewbornDx™Coverage: 96%
TTC21B
constricted thoracic cage, short ribs, shortened tubular bones, 'trident' appearance of the acetabular roof, polydactyly, anomalies of major organ systems
NewbornDx™Coverage: 99%
WDR19
end stage renal failure, small kidneys, interstitial fibrosis
NewbornDx™Coverage: 93%
WDR35
craniosynostosis, narrow rib cage, short limbs, brachydactyly, ectodermal defects, nephronophthisis, hepatic fibrosis, retinitis pigmentosa
NewbornDx™Coverage: 98%
Shprintzen-Goldberg syndrome
SKI
craniosynostosis of the coronal, sagittal, or lambdoid sutures, dolichocephaly, distinctive craniofacial features, dolichostenomelia, contractures, brain anomalies, cardivascular anomalies, cryptorchidism, minimal subcutaneous fat
NewbornDx™Coverage: 98%
Shwachman-Diamond Syndrome
SBDS
pancreatic insufficiency, neonatal respiratory distress, motor delay, hypotonia, neutropenia, short stature, respiratory infections, brain malformations, delayed skeletal maturation, narrow thorax, irregular ossification at anterior rib ends, single- or multi-lineage cytopenias, susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML)
NewbornDx™Coverage: 100%
Sialic acid storage disorder
SLC17A5
hypotonia, cerebellar ataxia, mental retardation, visceromegaly, coarse features
NewbornDx™Coverage: 96%
Sialidosis
NEU1
coarse facies, short stature, progressive vision loss, hepatomegaly, splenomegaly, skeletal involvement (dysostosis multiplex, epiphyseal stippling), seizuers, ataxia, hypotonia
NewbornDx™Coverage: 100%
Sialuria
GNE
proximal and distal muscle weakness and wasting of the upper and lower limbs
NewbornDx™Coverage: 100%
Sick sinus syndrome
HCN4
isolated sinus bradycardia, atrial fibrillation (some cases), no structural defects
NewbornDx™Coverage: 99%
SCN5A
syncope, presyncope, dizziness, fatigue, sinus bradycardia, sinus arrest, sinoatrial block, absent P waves, atrial inexcitability, prolonged QRS duration, prolonged His-ventricle conduction time, ventricular escape rhythms, atrial arrhythmias, intraventricular conduction defects, progressive alteration of cardiac conduction
NewbornDx™Coverage: 100%
Sickle cell disease, hemoglobin trait
HBB
swelling of the hands and feet, pallor, jaundice, pneumococcal sepsis or meningitis, severe anemia with splenic enlargement, acute chest syndrome
NewbornDx™Coverage: 100%
Sideroblastic anemia
ABCB7
non-progressive or slowly progressive ataxia, asymptomatic moderate hypochromic and microcytic anemia
NewbornDx™Coverage: 99%
ALAS2
hypochromic microcytic anemia, marrow ringed sideroblasts
NewbornDx™Coverage: 100%
SLC25A38
anemia, microcystosis, hypochromia, ringed sideroblasts on bone marrow aspirate, increased serum ferritin
NewbornDx™Coverage: 100%
TRNT1
sideroblastic anemia
NewbornDx™Coverage: 97%
Silver syndrome
BSCL2
decreased adipose tissue, insulin resistance, hypertriglyceridemia, hepatic steatosis, diabetes
NewbornDx™Coverage: 100%
Simpson-Golabi-Behmel syndrome
GPC3
overgrowth, macrocephaly, coarse facies, cardiac defects (cardiac conduction defect, VSD, pulmonic stenosis, cardiomyopathy), ocular hypertelorism, macroglossia, hepatosplenomegaly, Diastasis recti, umbilical hernias, supernumerary nipples
NewbornDx™Coverage: 97%
Singleton-Merten syndrome