ABCDEFGHIJKLMNOPQRSTUVWXYZ
Genes Condition Phenotype
Z
ZNF335
Primary microcephaly
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 100%
ZNF141
Postaxial polydactyly
unilateral or bilateral post-axial polydactyly, non-syndromic
NewbornDx™Coverage: 99%
ZMYND10
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
ZMPSTE24
Lethal restrictive dermopathyMandibuloacral dysplasia with type B lipodystrophy
thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, generalized joint ankylosis
NewbornDx™Coverage: 100%
ZIC3
Heterotaxy syndromeCongenital cardiac defectsVACTERL association
structural cardiac defects
NewbornDx™Coverage: 100%
ZIC2
Holoprosencephaly
tall, broad forehead, upslanting palpebral fissures, large ears, intellectual disability, facial dysmorphism
NewbornDx™Coverage: 93%
ZFPM2
Tetralogy of Fallot
Tetralogy of Fallot
NewbornDx™Coverage: 99%
ZFP57
Neonatal diabetes mellitus
insulin-requiring hyperglycemia, transient diabetes - resolves at a median age of 3 months, permanent diabetes
NewbornDx™Coverage: 100%
ZEB2
Mowat-Wilson syndrome
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%
ZC4H2
Wieacker-Wolff syndrome
fetal akinesia, arthrogryposis, facial and bulbar weakness, characteristic dysmorphic facial features, skeletal abnormalities
NewbornDx™Coverage: 100%
ZBTB24
Immunodeficiency-centromeric instability-facial anomalies syndrome
poor growth, facial dysmorphism, recurrent infections, mental retardation, delayed motor developmental normal absolute B cells, hypogammaglobulinemia, death due to infections
NewbornDx™Coverage: 100%
ZAP70
Severe combined immunodeficiencyInfantile-onset multisystem autoimmune disease
inflammatory colitis, skin blistering, bullous pemphigoid, autoimmune hypothyroidism, autoantibody production
NewbornDx™Coverage: 100%
Y
YARS2
Myopathy, lactic acidosis, and sideroblastic anemia
cardiomyopathy, respiratory insufficiency resulting in early death
NewbornDx™Coverage: 100%
X
XYLT1
Desbuquois dysplasia
dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, flat face with prominent eyes
NewbornDx™Coverage: 88%
XRCC2
Fanconi anemia
microcephaly, left facial nerve palsy, bilaterally absent thumbs, poor growth
NewbornDx™Coverage: 97%
XPC
Xeroderma pigmentosum
increased sensitivity to ultraviolet (UV) irradiation, increased risk of skin cancer resulting from a defect in DNA repair
NewbornDx™Coverage: 100%
XPA
Xeroderma pigmentosum
increased sensitivity to ultraviolet (UV) irradiation, increased risk of skin cancer resulting from a defect in DNA repair
NewbornDx™Coverage: 99%
XIAP
Lymphoproliferative syndrome
severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV)
NewbornDx™Coverage: 86%
XDH
Xanthinuria
large amounts of xanthine in the urine, xanthine stones
NewbornDx™Coverage: 100%
W
WWOX
Epileptic encephalopathy
microcephaly, poor growth, lack of psychomotor development, intractable seizures, myoclonic movements, hyperreflexia, decreased vision
NewbornDx™Coverage: 100%
WT1
Wilms tumor-aniridia-genital anomalies-retardation syndrome
renal failure, risk of Wilms tumor, abnormal external genitalia
NewbornDx™Coverage: 100%
WNT7A
Fuhrmann syndrome
bowing of the femurs, aplasia or hypoplasia of the fibula, poly-/syn-/oligodactyly
NewbornDx™Coverage: 100%
WNT5A
Robinow syndrome
dysmorphic facial, mesomelic limb shortening, hypoplastic external genitalia (males), renal abnormalities, vertebral anomalies
NewbornDx™Coverage: 100%
WNT3
Tetra-amelia syndrome
tetramelia, hydrocephalus, absence of frontal bones and external ears, rudimentary nose, cleft palate, severe pulmonary hypoplasia, absence of thyroid, dysplastic kidneys, gallbladder, spleen, uterus, and ovaries, imperforate anus and vagina, abnormal external gentalia
NewbornDx™Coverage: 100%
WNT10A
Odontoonychodermal dysplasiaSchopf-Schulz-Passarge syndrome
dry hair, severe hypodontia, smooth tongue, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, hyperkeratosis of the skin
NewbornDx™Coverage: 100%
WNT1
Osteogenesis Imperfecta
recurrent fractures, bone deformity, significant reduction of bone density, short stature
NewbornDx™Coverage: 100%
WNK1
Hereditary sensory and autonomic neuropathyPseudohypoaldosteronism
impaired sensation in distal extremities, hyporeflexia, hypotonia, areflexia, joint degeneration, GE reflux, acroosteolysis, impaired corneal reflex
NewbornDx™Coverage: 100%
WFS1
Wolfram syndromeWolfram-Like syndrome
diabetes insipidus juvenile-onset, optic atrophy, high tone sensorineural hearing impairment, cerebellar ataxia
NewbornDx™Coverage: 100%
WDR81
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome
cerebellar hypoplasia, mental retardation, quadrupedal locomotion, absent speech, short stature, coarse facial features
NewbornDx™Coverage: 100%
WDR73
Galloway-Mowat syndrome
microcephaly, central nervous system abnormalities resulting in severely delayed psychomotor development
NewbornDx™Coverage: 100%
WDR62
Primary microcephaly
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 100%
WDR45
Neurodegeneration with brain iron accululation
global developmental delay, iron accumulation in the brain
NewbornDx™Coverage: 100%
WDR35
Short-rib thoracic dysplasiaCranioectodermal dysplasia
craniosynostosis, narrow rib cage, short limbs, brachydactyly, ectodermal defects, nephronophthisis, hepatic fibrosis, retinitis pigmentosa
NewbornDx™Coverage: 98%
WDR19
Senior-Loken syndromeNephronophthisisShort-rib thoracic dysplasia
end stage renal failure, small kidneys, interstitial fibrosis
NewbornDx™Coverage: 93%
WDPCP
Congenital heart defects, hamartomas, and polysyndactyly
congenital heart defects, hamartomas of the tongue, polydactyly
NewbornDx™Coverage: 91%
WAS
Severe congenital neutropeniaThrombocytopeniaWiskott-Aldrich syndrome
decreased numbers of platelets, bleeding tendency
NewbornDx™Coverage: 95%
WAC
Desanto-Shinawi syndrome
global developmental delay, dysmorphic facial features
NewbornDx™Coverage: 93%
V
VWF
von Willebrand disease
mucocutaneous bleeding, musculoskeletal bleeding
NewbornDx™Coverage: 100%
VRK1
Pontocerebellar hypoplasia
anterior horn cell degeneration, abnormal growth and function of the brainstem and cerebellum, little or no development
NewbornDx™Coverage: 98%
VPS53
Pontocerebellar hypoplasia
profound mental retardation, hypotonia, progressive microcephaly, spasticity, epilepsy
NewbornDx™Coverage: 100%
VPS45
Severe congenital neutropenia
neutropenia, neutrophil dysfunction, recurrent infections, bone marrow fibrosis, renal extramedullary hematopoiesis
NewbornDx™Coverage: 91%
VPS33B
Arthrogryposis-renal dysfunction-cholestasis syndrome
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%
VPS13B
Cohen syndrome
facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, intermittent congenital neutropenia
NewbornDx™Coverage: 99%
VPS11
Hypomyelinating leukodystrophy
developmental delay, hypomyelination on brain imaging, truncal hypotonia, contractures, limited or no speech
NewbornDx™Coverage: 100%
VMA21
Myopathy, X-linked, with excessive autophagy
muscle weakness, atrophy of proximal muscles
NewbornDx™Coverage: 98%
VLDLR
Cerebellar hypoplasia and mental retardation syndrome
nonprogressive congenital cerebellar ataxia with mental retardation, hypotonia, exaggerated deep tendon reflexes, short stature
NewbornDx™Coverage: 99%
VIPAS39
Arthrogryposis-renal dysfunction-cholestasis syndrome
arthrogryposis, renal tubular dysfunction, cholestasis
NewbornDx™Coverage: 100%
VEGFC
Hereditary lymphedema
upslanting and dysplastic toenails, deep toes creases, papillomas over the affected area, cellulitis, lymphedema of the feet and ankles
NewbornDx™Coverage: 98%
VDR
Rickets
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%
VARS2
Combined oxidative phosphorylation deficiency
mitochondrial encephalomyopathy
NewbornDx™Coverage: 97%
VANGL1
Caudal regression syndrome
congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs
NewbornDx™Coverage: 100%
U
UVSSA
UV-sensitive syndrome
cutaneous photosensitivity, slight dyspigmentation
NewbornDx™Coverage: 99%
USP9X
Syndromic mental retardation
intellectual disability, language delay, hypotonia, feeding difficulties, breathing difficulties
NewbornDx™Coverage: 90%
USH1C
Usher syndrome
severe to profound SNHL, progressive vision loss, impaired night vision and peripheral vision, decreased central vision
NewbornDx™Coverage: 100%
USB1
Poikiloderma with neutropenia
papular erythematous rash, hypo- and hyperpigmentation result, development of telangiectasias
NewbornDx™Coverage: 100%
UROS
Congenital erythropoietic porphyria
pink to dark-red discoloration of the urine, blistering of skin, photosensitivity, hemolytic anemia, photomutilation, non-immune hydrops fetalis
NewbornDx™Coverage: 100%
UROD
Porphyria
excretion of large amounts of uroporphyrin, liver disease, photosensitivity, blisters in sun-exposed areas, fingernail onycholsis, facial hypertrichosis, alopecia
NewbornDx™Coverage: 100%
UQCRQ
Mitochondrial complex III deficiency
developmental delay, dystonia, ataxia, mild axial hypotonia, hypertonia tone, hyperreflexia
NewbornDx™Coverage: 100%
UQCRC2
Mitochondrial complex III deficiency
metabolic acidosis, hyperammonemia, hypoglycemia, poor sucking, episodic metabolic decompensation, developmental delay
NewbornDx™Coverage: 98%
UQCRB
Mitochondrial complex III deficiency
hypoglycemia, metabolic acidosis, hyperlactatemia(during metabolic crisis), normal development
NewbornDx™Coverage: 99%
UQCC3
Mitochondrial complex III deficiency
feeding difficulties, hypoglycemia, severe lactic acidosis, delayed psychomotor development
NewbornDx™Coverage: 100%
UQCC2
Mitochondrial complex III deficiency
IUGR, hypotonia, lactic acidosis, dysmorphic features, global developmental delay, sensorineural hearing loss, proximal renal tubular acidosis, seizures
NewbornDx™Coverage: 100%
UPF3B
Syndromic mental retardation
mental retardation, slender build, poor musculature, facial dysmorphism, pectus deformities
NewbornDx™Coverage: 91%
UPB1
Beta-ureidopropionase deficiency
neonatal hypotonia, global developmental delay
NewbornDx™Coverage: 100%
UNC13D
Familial hemophagocytic lymphohistiocytosis
fever, hepatosplenomegaly, pancytopenia, coagulation abnormality, liver dysfunction
NewbornDx™Coverage: 100%
UMPS
Orotic aciduria
megaloblastic anemia, normal platelet count, low to normal reticulocyte count, orotic acid crystalluria
NewbornDx™Coverage: 100%
UGT1A1
Crigler-Najjar syndromeTransient familial neonatal hyperbilirubinemia
jaundice, kernicterus, lethargy, hypertonia
NewbornDx™Coverage: 100%
UCP2
Congenital hyperinsulinism
lethargy, irritability, difficulty feeding, hypoglycemia
NewbornDx™Coverage: 100%
UBR1
Johanson-Blizzard syndrome
poor growth, mental retardation, aplasia or hypoplasia of the nasal alae, abnormal hair patterns, oligodontia
NewbornDx™Coverage: 94%
UBE3B
Kaufman oculocerebrofacial syndrome
intrauterine and postnatal growth retardation, microcephaly with mental retardation facial dysmorphism, congenital hypotonia, micrognathia, neonatal respiratory distress
NewbornDx™Coverage: 98%
UBE3A
Angelman Syndrome
postnatal microcephaly, global developmental delay, ataxia, seizures, sleeping disturbances, excitable demeanor, ocular hypopigmentation, protruding tongue, feeding difficulties in neonatal period, hypotonia
NewbornDx™Coverage: 100%
UBE2T
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 89%
UBA1
Spinal muscular atrophy
hypotonia, areflexia, contractures, loss of anterior horn cells
NewbornDx™Coverage: 100%
T
TYR
Oculocutaneous albinism
hypopigmentation of the skin and hair, nystagmus, reduced iris pigment, foval hypopigmentation
NewbornDx™Coverage: 100%
TWIST1
Saethre-Chotzen syndrome
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%
TUSC3
Syndromic mental retardation
nonsyndromic severe mental retardation
NewbornDx™Coverage: 99%
TULP1
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 100%
TUFM
Combined oxidative phosphorylation deficiency
lactic acidosis, progressive encephalopathy, metabolic acidosis, microcephaly, generalized axial hypotonia with limb spasticity
NewbornDx™Coverage: 100%
TUBGCP6
Microcephaly and chorioretinopathy
microcephaly, retinal pigmentary abnormalities, decreased vision, hypotonia, delayed psychomotor development, structural brain malformations
NewbornDx™Coverage: 100%
TUBG1
Complex cortical dysplasia
micocephaly, spastic tetraplegia, brain malformations including posterior agyria, frontal pachygyria, thick cortex
NewbornDx™Coverage: 100%
TUBB4A
Hypomyelinating leukodystrophy
delayed motor development, gait instability, dystonia, choreoathetosis, rigidity, hypomyelination, cerebellar atrophy, atrophy or disappearance of the putamen
NewbornDx™Coverage: 94%
TUBB3
Congenital fibrosis of extraocular musclesComplex cortical dysplasia
mild to severe mental retardation, strabismus, axial hypotonia, spasticity, brain malformations
NewbornDx™Coverage: 100%
TUBB2B
Polymicrogyria
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%
TUBB2A
Complex cortical dysplasia
infantile spasms, hypsarrhythmia, global developmental delay, generalized hypotonia, no speech, structural brain abnormalities
NewbornDx™Coverage: 100%
TUBB
Congenital symmetric circumferential skin creases
folding of excess skin of the limbs, intellectual disability, cleft palate, dysmorphic features
NewbornDx™Coverage: 98%
TUBA8
Polymicrogyria
severe developmental delay, hypotonia, seizures, optic nerve hypoplasia, extensive polymicrogyria with dysplastic or absent corpus callosum, colpocephaly
NewbornDx™Coverage: 100%
TUBA1A
Lissencephaly
congenital microcephaly, hypotonia, mental retardation, seizures, motor delay, structural brain anomalities
NewbornDx™Coverage: 100%
TTN
Myopathy, proximal, with early respiratory muscle involvement
myopathy, cardiomyopathy
NewbornDx™Coverage: 99%
TTC7A
Gastrointestinal defects and immunodeficiency syndrome
multiple intestinal atresia
NewbornDx™Coverage: 97%
TTC21B
Short-rib thoracic dysplasia
constricted thoracic cage, short ribs, shortened tubular bones, 'trident' appearance of the acetabular roof, polydactyly, anomalies of major organ systems
NewbornDx™Coverage: 99%
TTC19
Mitochondrial complex III deficiency
ataxia, apraxia, dystonia, dysarthria, necrotic lesions in the brain
NewbornDx™Coverage: 84%
TSR2
Diamond-Blackfan anemia
pallor, weakness, failure to thrive, macrocytic anemia
NewbornDx™Coverage: 90%
TSHR
Congenital hypothyroidismNonautoimmune hyperthyroidism
no goiter, normal size thyroid gland, euthyroidism, increased TSH, hypothyroidism
NewbornDx™Coverage: 100%
TSHB
Congenital hypothyroidism
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%
TSFM
Combined oxidative phosphorylation deficiency
hypotonia, sucking weakness, lactic acidosis, cardiomyopathy
NewbornDx™Coverage: 93%
TSEN54
Pontocerebellar hypoplasia
small cerebellum and brainstem, progressive microcephaly, dyskinesia, chorea, epilepsy
NewbornDx™Coverage: 96%
TSEN34
Pontocerebellar hypoplasia
congenital microcephaly, dyskinesia, chorea, epilepsy
NewbornDx™Coverage: 100%
TSEN2
Pontocerebellar hypoplasia
congenital microcephaly, dyskinesia, chorea, epilepsy
NewbornDx™Coverage: 98%
TSC2
Tuberous sclerosis
skin abnormalities (hypomelanotic macules, facial angiofibromas, shagreen patches), brain anomalies, intellectual disability/developmental delay, renal disease, rhabdomyomas, lymphangioleiomyomatosis seizures, CNS tumors
NewbornDx™Coverage: 100%
TSC1
Tuberous sclerosis
skin abnormalities (hypomelanotic macules, facial angiofibromas, shagreen patches), brain anomalies, intellectual disability/developmental delay, renal disease, rhabdomyomas, lymphangioleiomyomatosis seizures, CNS tumors
NewbornDx™Coverage: 100%
TRPV4
Spinal muscular atrophy
metatropic dysplasia, severe contractures, proximal and distal muscle weakness, atrophy of distal leg muscles
NewbornDx™Coverage: 100%
TRPS1
Trichorhinophalangeal syndrome
sparse scalp hair, cone-shaped epiphyses at the phalanges, hip malformations, short stature, microcephaly
NewbornDx™Coverage: 100%
TRPM6
Hypomagnesemia
muscle spasms, tetany
NewbornDx™Coverage: 98%
TRPM1
Congenital stationary night blindness
myopia, reduced central vision, nystagmus, reduced rod electroretinographic
NewbornDx™Coverage: 98%
TRPA1
Familial episodic pain syndrome
episodic debilitating upper body pain triggered by fasting, cold, and physical stress
NewbornDx™Coverage: 88%
TRNT1
Sideroblastic anemia
sideroblastic anemia
NewbornDx™Coverage: 97%
TRMU
Infantile transient liver failure
elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia
NewbornDx™Coverage: 99%
TRMT10A
Microcephaly, short stature, and impaired glucose metabolism
microcephaly, intellectual disability, short stature, early-onset diabetes
NewbornDx™Coverage: 100%
TRIP11
Achondrogenesis
deficient ossification in the lumbar vertebrae, absent ossification in the sacral, pubic and ischial bones
NewbornDx™Coverage: 94%
TRIM32
Limb-girdle muscular dystrophy
nonprogressive muscular weakness
NewbornDx™Coverage: 100%
TRHR
Generalized thyrotropin-releasing hormone resistance
central hypothyroidism, insufficient TSH secretion, low levels of thyroid hormones
NewbornDx™Coverage: 100%
TREX1
Aicardi-Goutieres syndrome
hepatosplenomegaly, elevated liver enzymes, thrombocytopenia, severe encephalopathy, chilblain skin lesions (fingers, toes, and ears), severe intellectual disability
NewbornDx™Coverage: 100%
TRAPPC9
Syndromic mental retardation
postnatal microcephaly, dysmorphic features, moderate to severe mental retardation, thin corpus callosum, white matter abnormalities, hypoplasia of inferior cerebellar vermis
NewbornDx™Coverage: 100%
TRAP1
CAKUT with or without VACTERL
congential kidney and urinary tract abnrormalities
NewbornDx™Coverage: 99%
TRAC
Immunodeficiency
recurrent respiratory infections, diarrhea, failure to thrive, lymphadenopathy, hepatosplenomegaly, hypereosinophilia
NewbornDx™Coverage: 100%
TPP1
Neuronal ceroid lipofuscinosis
progressive congnitive decline/regression, seizures, retinal degeneration, progressive visual failure
NewbornDx™Coverage: 100%
TPO
Thyroid dyshormonogenesis
goiter, hypothyroidism, low or low-normal T4, absent or abnormal thyroglobulin
NewbornDx™Coverage: 100%
TPM3
Nemaline myopathyCAP myopathyCongenital myopathy with fiber type disproportion
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
TPM2
Nemaline myopathyDistal arthrogryposisCAP myopathyArthrogryposis multiplex congenita, distal, type 1
myopathy, hypotonia, feeding and swallowing difficulties
NewbornDx™Coverage: 100%
TPI1
Hemolytic anemia
congenital hemolytic anemia, respiratory distress
NewbornDx™Coverage: 100%
TP63
Hay-Wells syndrome
limb anomalies (hand/foot malformations as split hand or split foot, cutaneous syndactyly), ectodermal dysplasia, absence or small mammary glands
NewbornDx™Coverage: 100%
TNNT3
Distal arthrogryposis
clenched fist, overlapping fingers, camptodactyly, ulnar deviation, positional foot deformities from birth
NewbornDx™Coverage: 91%
TNNT1
Nemaline myopathy
neonatal tremors, progressive proximal contractures
NewbornDx™Coverage: 98%
TNNI3K
Cardiac conduction defect, dilated cardiomyopathy
atrial fibrillation, multifocal or ectopic atrial tachycardia
NewbornDx™Coverage: 93%
TNNI2
Distal arthrogryposis
clenched fist, overlapping fingers, camptodactyly, ulnar deviation, positional foot deformities from birth
NewbornDx™Coverage: 100%
TNK2
Familial epilepsy
focal seizures, delayed psychomotor development, hypertonia
NewbornDx™Coverage: 100%
TNFSF11
Osteopetrosis
mandibular prognathism, genu valgum, anemia, hepatosplenomegaly
NewbornDx™Coverage: 100%
TNFRSF13C
Common variable immunodeficiency
recurrent infections, decreased number of mature B cells, normal T cell count, decreased serum IgG, IgM, normal IgA
NewbornDx™Coverage: 85%
TNFRSF11B
Paget disease of bone
short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, hyperostosis with progressive hearing loss
NewbornDx™Coverage: 100%
TNFRSF11A
Osteopetrosis
severe osteoclast-poor osteopetrosis
NewbornDx™Coverage: 96%
TMEM70
Mitochondrial complex V deficiency
hypertrophic cardiomyopathy, lactic acidosis, mild psychomotor retardation, hypospadias, facial dysmorphism
NewbornDx™Coverage: 99%
TMEM67
Meckel syndromeCOACH syndrome
mental retardation, cerebellar hypoplasia, hypotonia, developmental delay, hepatic fibrosis
NewbornDx™Coverage: 90%
TMEM5
Muscular dystrophy-dystroglycanopathy
cobblestone lissencephaly, cerebellar dysplasia, retinal dysplasia, gonadal dysgenesis, occipital neural tube defects
NewbornDx™Coverage: 92%
TMEM43
Arrhythmogenic right ventricular dysplasiaEmery-Dreifuss muscular dystrophy
arrhythmogenic right ventricular dysplasia
NewbornDx™Coverage: 96%
TMEM38B
Osteogenesis Imperfecta
fractures, low bone mass, osteopenia, progressive hearing loss
NewbornDx™Coverage: 99%
TMEM237
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 94%
TMEM231
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TMEM216
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TMEM165
Congenital disorder of glycosylation
skeletal dysplasia, abnormal white matter, pituitary hypoplasia
NewbornDx™Coverage: 96%
TMEM138
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TMEM126A
Optic atrophy
severe bilateral deficiency in visual acuity, optic disc pallor, central scotoma
NewbornDx™Coverage: 95%
TK2
Mitochondrial DNA depletion syndrome
progressive generalized hypotonia, progressive external ophthalmoplegia, severe lactic acidosis, myopathy
NewbornDx™Coverage: 97%
TJP2
Non-syndromic hearing lossProgressive familial intrahepatic cholestasisProgressive familial intrahepatic cholestasis
intrahepatic cholestasis, liver failure, portal hypertension
NewbornDx™Coverage: 100%
TINF2
Dyskeratosis congenita
mucosal leukoplakia, nail dysplasia, abnormal skin pigmentation
NewbornDx™Coverage: 100%
THRB
Thyroid hormone resistance
hearing loss, stippled epiphyses, goiter, abnormally high PBI, low birth weight
NewbornDx™Coverage: 100%
TH
Segawa Syndrome
dystonia
NewbornDx™Coverage: 95%
TGM5
Peeling skin syndrome
skinshedding of the outer epidermis
NewbornDx™Coverage: 100%
TGM1
Congenital ichthyosis
collodion-like membrane at birth, development of large thick scales throughout body
NewbornDx™Coverage: 99%
TGIF1
Holoprosencephaly
structural malformation of forebrain
NewbornDx™Coverage: 100%
TGFBR2
Loeys-Dietz syndrome
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
Loeys-Dietz syndrome
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
Loeys-Dietz syndrome
aortic aneurysm, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, clubfeet, thin skin with easy bruising and striae
NewbornDx™Coverage: 0%
TGFB2
Loeys-Dietz syndrome
aortic aneurysm, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, clubfeet, thin skin with easy bruising and striae
NewbornDx™Coverage: 0%
TGFB1
Camurati-Engelmann disease
cortical thickening of the diaphyses of the long bones, limb pain, muscular weakness, anemia, leukopenia, hepatosplenomegaly
NewbornDx™Coverage: 100%
TGDS
Catel-Manzke syndrome
Pierre Robin anomaly, radial deviation of the index finger
NewbornDx™Coverage: 86%
TG
Thyroid dyshormonogenesis
goiter, hypothyroidism, euthyroid
NewbornDx™Coverage: 100%
TFB1M
Abnormal insulin secretion
impaired insulin secretion, diabetes
NewbornDx™Coverage: 100%
TFAP2B
Char syndrome
patent ductus arteriosus, facial dysmorphism
NewbornDx™Coverage: 100%
TFAP2A
Branchiooculofacial syndrome
branchial cleft sinus defects, developmental ocular anomalies, dysmorphic facial appearance, cleft or pseudocleft lip/palate
NewbornDx™Coverage: 100%
TERT
Dyskeratosis congenita
short stature, failure to thrive, microcephaly, dilated cardiomyopathy, pulmonary fibrosis, bluish discoloration of tongue, nail dystrophy, gray forelock, premature graying, thrombocytopenia
NewbornDx™Coverage: 98%
TEK
Multiple cutaneous and mucosal venous malformations
venous malformation in which lesions tend to be multifocal and small
NewbornDx™Coverage: 100%
TECPR2
Spastic paraplegia
short stature, microcephaly, episodic central apnea, GE reflux, hypotonia, global developmental delay, ataxia, thin corpus callosum, cerebral atrophy
NewbornDx™Coverage: 100%
TDGF1
Forebrain defects
holoprosencephaly
NewbornDx™Coverage: 100%
TCTN3
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
TCTN2
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 96%
TCTN1
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 93%
TCOF1
Treacher Collins syndrome
antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, macrostomia, conductive hearing loss
NewbornDx™Coverage: 99%
TCN2
Transcobalamin II deficiency
failure to thrive, vomiting, diarrhea, megaloblastic anemia, mucosal ulceration in mouth, pancytopenia, recurrent infections
NewbornDx™Coverage: 100%
TCIRG1
Osteopetrosis
dense bone mass
NewbornDx™Coverage: 94%
TCF4
Pitt-Hopkins syndrome
microcephaly, dysmorphic features, hyperventilation, constipation, hypotonia, severe intellectual disability, ataxia, seizures, hypotonia, happy personality, sterotypical movements, myopia, short stature, cryptorchidism
NewbornDx™Coverage: 96%
TCF12
Craniosynostosis
premature fusion of the cranial sutures (coronal, sagittal, and multisuture forms)
NewbornDx™Coverage: 99%
TCAP
Limb-girdle muscular dystrophy
proximal and distal muscle atrophy in lower limbs, areflexia in lower limbs, distal muscle weakness, elevated CK
NewbornDx™Coverage: 100%
TBXAS1
Ghosal hematodiaphyseal syndrome
diaphyseal dysplasia, refractory anemia
NewbornDx™Coverage: 100%
TBX6
Spondylocostal dysostosis
hemivertebrae, vertebral fusion, dwarfism, rib anomalies, reduced rib number, progressive lower back pain
NewbornDx™Coverage: 100%
TBX5
Holt-Oram syndrome
upper-extremity malformations, congenital heart malformation
NewbornDx™Coverage: 100%
TBX4
Small patella syndrome
small or absent patellas
NewbornDx™Coverage: 94%
TBX3
Ulnar-mammary syndrome
bilateral ulnar defects, inverted nipples, short stature with associated growth hormone deficiency, cryptorchidism
NewbornDx™Coverage: 100%
TBX20
Atrial septal defect
various cardiac anomalies
NewbornDx™Coverage: 100%
TBX19
Adrenocorticotropic hormone deficiency
congential isolated ACTH, severe hypoglycemia, low or absent cortisol, low plasma ACTH
NewbornDx™Coverage: 100%
TBX15
COUSIN syndrome
complex cranial, cervical, auricular, and skeletal malformation syndrome, scapular and pelvic hypoplasia
NewbornDx™Coverage: 100%
TBX1
Velocardiofacial syndrome
velocardiofacial syndrome, DiGeorge syndrome, cleft palate, cardiac anomalies, typical facies, and learning disabilities, congenital heart defects (Tetralogy of Fallot, conotruncal anomaly)
NewbornDx™Coverage: 80%
TBCE
Hypoparathyroidism-retardation-dysmorphism syndromeKenny-Caffey syndrome
congenital hypoparathyroidism, severe growth retardation, developmental delay, microcephaly, facial and dental anomalies, small hands and feet, dysmorphic facial features
NewbornDx™Coverage: 100%
TBC1D24
Non-syndromic hearing lossEpileptic encephalopathyDOOR syndromeFamilial myoclonic epilepsy
microcephaly, coarse facies, sensorineural hearing loss, optic atrophy, small or absent distal phalanges of hands and feet, hypotonia, cerebral atrophy, seizures
NewbornDx™Coverage: 100%
TBC1D20
Warburg micro syndrome
postnatal growth retardation, postnatal microcephaly, bilateral congenital cataracts, optic atrophy, severe axial hypotonia
NewbornDx™Coverage: 97%
TAZ
Barth syndrome
dilated cardiomyopathy, myopathy, neutropenia, hypotonia, short stature, growth delay, feeding difficulties, mild learning disabilities
NewbornDx™Coverage: 96%
TAT
Tyrosinemia, type III
herpetiform corneal ulcers, punctate keratoses (digits, palms, and soles), growth retardation, intellectual disability
NewbornDx™Coverage: 100%
TARS2
Combined oxidative phosphorylation deficiency
axial hypotonia, severe psychomotor delay
NewbornDx™Coverage: 100%
TALDO1
Transaldolase deficiency
cardiac defects, wrinkly skin, dysmorphic facial features
NewbornDx™Coverage: 100%
TACR3
Hypogonadotropic hypogonadism
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%
TACO1
Mitochondrial complex IV deficiency
normal early development, dystonia, dysarthria, mild-to-moderate intellectual disability, optic atrophy, hypotonia, renal tubulopathy, white matter changes
NewbornDx™Coverage: 100%
TAC3
Hypogonadotropic hypogonadism
absent or incomplete sexual maturation, low levels of circulating gonadotropins and testosterone, anosmia, cleft palate, sensorineural hearing loss
NewbornDx™Coverage: 100%
TAB2
Congenital cardiac defects
nonsyndromic congential heart defects
NewbornDx™Coverage: 99%
S
SZT2
Epileptic encephalopathy
lack of psychomotor development, dysmorphic facial features, refractory seizures, thick corpus callosum, persistent cavum septum pellucidum, hypotonia
NewbornDx™Coverage: 100%
SYNGAP1
Syndromic mental retardation
hypotonia, developmental delay, intellectual disability, regression, seizures, normal brain MRI
NewbornDx™Coverage: 98%
SYNE2
Emery-Dreifuss muscular dystrophy
proximal muscle weakness and atrophy, elevated serum CK, respiratory insufficiency, cardiomyopathy, arrhythmias
NewbornDx™Coverage: 94%
SYNE1
Emery-Dreifuss muscular dystrophy
proximal muscle weakness and atrophy, neck muscle weakness and atrophy, ventricular and septal hypertrophy, elevated CK
NewbornDx™Coverage: 99%
SURF1
Combined oxidative phosphorylation deficiencyLeigh syndromeCharcot-Marie-Tooth disease
bilaterally symmetric necrotic lesions in subcortical brain regions
NewbornDx™Coverage: 90%
SUOX
Sulfite oxidase deficiency
ectopia lentis, infantile hemiplegia, hypotonia, hypertonia, generalized dystonia, seizures, ataxia, developmental delay, choreoathetosis, fine hair, eczema
NewbornDx™Coverage: 100%
SUMF1
Multiple sulfatase deficiency
leukodystrophy, dysostosis multiplex, ichthyosis, hypotonia, scoliosis, hepatosplenomegaly, hearing loss
NewbornDx™Coverage: 100%
SULF1
Mesomelia-synostoses syndrome
severe skeletal changes (ankles, knees, and elbows), brachymetacarpy, brachymetatarsy, ptosis, hypertelorism, palatal abnormality, congenital heart disease, ureteral anomalies
NewbornDx™Coverage: 96%
SUGCT
Glutaric acidemia, type III
failure to thrive, hypertension, diarrhea, vomiting, glutaric aciduria
NewbornDx™Coverage: 91%
SUCLG1
Mitochondrial DNA depletion syndrome
hypotonia, lactic acidosis, feeding difficulties, failure to thrive, progressive neurologic deterioration, basal ganglias lesions, cerebral atrophy
NewbornDx™Coverage: 95%
SUCLA2
Mitochondrial DNA depletion syndrome
hypotonia, failure to thrive, lactic acidosis, muscle weakness, progressive neurologic deterioration, inconsolable crying, irritability, external ophthalmoplegia, deafness
NewbornDx™Coverage: 100%
STXBP2
Familial hemophagocytic lymphohistiocytosis
anemia, granulocytopenia, thrombocytopenia
NewbornDx™Coverage: 98%
STXBP1
Epileptic encephalopathy
seizures (clonic-tonic, tonic, myoclonic, absence, atonic, focal dyscognitive seizures), hypsarrhythmia, status epilepticus, developmental regression, hypotonia, severe intellectual disability
NewbornDx™Coverage: 99%
STX1B
Familial epilepsy
febrile/afebrile seizures
NewbornDx™Coverage: 100%
STT3B
Congenital disorder of glycosylation
hypotonia, developmental delay, feeding issues, failure to thrive
NewbornDx™Coverage: 98%
STT3A
Congenital disorder of glycosylation
hypotonia, developmental delay, feeding issues, failure to thrive
NewbornDx™Coverage: 100%
STS
Congenital ichthyosis
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%
STRA6
Microphthalmia
bilateral anophthalmia or microphthalmia, right diaphragmatic hernia, agenesis of the right lung and pulmonary vessels, intrauterine growth retardation
NewbornDx™Coverage: 97%
STK4
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
progressive loss of naive T cells, recurrent infections, warts, abscesses, continuous or intermittent neutropenia
NewbornDx™Coverage: 100%
STIL
Primary microcephaly
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 99%
STAT3
Hyper-IgE syndromeInfantile-onset multisystem autoimmune disease
insulin-dependent diabetes mellitus autoimmune enteropathy, celiac disease, autoimmune hematologic disorders, short stature, nonspecific dermatitis, hypothyroidism, delayed puberty
NewbornDx™Coverage: 100%
STAT1
Immunodeficiency
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%
STAR
Congenital lipoid adrenal hyperplasia
adrenogenital syndrome, hypospadias, phenotypic female, salt-wasting, lipoid adrenal hyperplasia
NewbornDx™Coverage: 100%
STAMBP
Microcephaly-capillary malformation syndrome
progressive microcephaly, refractory epilepsy, profound developmental delay, multiple small capillary malformations throughout body
NewbornDx™Coverage: 92%
STAC3
Native American myopathy
muscle weakness, susceptibility to malignant hyperthermia, multiple joint contractures, dysmorphic facial features
NewbornDx™Coverage: 100%
ST3GAL5
Amish infantile epilepsy syndrome
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%
ST3GAL3
Epileptic encephalopathy
infantile spasms, poor eye contact, hypotonia, irritability, profound intellectual disbility
NewbornDx™Coverage: 100%
ST14
Congenital ichthyosis
patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, hypohidrosis
NewbornDx™Coverage: 99%
SSR4
Congenital disorder of glycosylation
microcephaly, cognitive impairment, seizures
NewbornDx™Coverage: 100%
SRPX2
Rolandic epilepsy, mental retardation, and speech dyspraxia
oral and speech dyspraxia, rolandic seizures, mental retardation
NewbornDx™Coverage: 100%
SRD5A3
Congenital disorder of glycosylationKahrizi syndrome
congenital eye malformations, nystagmus, hypotonia, developmental delay/intellectual disability, cerebellar ataxia
NewbornDx™Coverage: 100%
SRCAP
Floating-Harbor syndrome
proportionate short stature, delayed bone age, delayed speech development, typical facial features
NewbornDx™Coverage: 100%
SPTLC1
Hereditary sensory and autonomic neuropathy
peripheral neuropathy
NewbornDx™Coverage: 99%
SPTBN2
Spinocerebellar ataxia
degeneration of the cerebellum, ataxia, abnormal eye movements
NewbornDx™Coverage: 100%
SPTB
Spherocytosis
anemia, jaundice, splenomegaly
NewbornDx™Coverage: 100%
SPTAN1
Epileptic encephalopathy
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%
SPTA1
Elliptocytosis
elliptically shaped erythrocytes, hemolytic anemia/anemia, jaundice, splenomegaly
NewbornDx™Coverage: 100%
SPRED1
Legius syndrome
multiple cafe-au-lait spots, variable dysmorphic facial features
NewbornDx™Coverage: 95%
SPR
Dopa-responsive dystonia
microcephaly, failure to thrive, oculogyric crises, delayed psychomotor development, seizures, spasticity, hypotonia
NewbornDx™Coverage: 100%
SPINK5
Netherton syndrome
neonatal scaling erythroderma, bamboolike hair defect, profound atopic diathesis
NewbornDx™Coverage: 91%
SPEG
Centronuclear myopathy
severe neonatal hypotonia, respiratory insufficiency, difficulty feeding
NewbornDx™Coverage: 97%
SPECC1L
Opitz GBBB syndrome
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%
SPATA5
Epilepsy, hearing loss, and mental retardation syndrome
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%
SPAG1
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 81%
SP7
Osteogenesis Imperfecta
recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, white sclerae
NewbornDx™Coverage: 97%
SOX9
Campomelic dysplasia
congenital bowing and angulation of long bones, skeletal and extraskeletal defects
NewbornDx™Coverage: 100%
SOX3
Panhypopituitarism
panhypopituitarism, pituary dwarfism
NewbornDx™Coverage: 93%
SOX2
MicrophthalmiaOptic nerve hypoplasia and abnormalities of the central nervous system
anophthalmia or microphthalmia
NewbornDx™Coverage: 100%
SOX18
Hypotrichosis-lymphedema-telangiectasia syndrome
absent eyebrows, eyelashes, eyelid edema, hydrocele, scotal edema, lower limb lymphedema, hypotrichosis
NewbornDx™Coverage: 80%
SOX11
Syndromic mental retardation
microcephaly, growth deficiency, hypoplastic fifth toenails, mild intellectual disability, hypertrichosis, facial dysmorphism
NewbornDx™Coverage: 98%
SOX10
Waardenburg syndrome
sensorineural hearing loss, heterochromia iridum, white forelock
NewbornDx™Coverage: 100%
SOS2
Noonan syndrome
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%
SOS1
Noonan syndrome
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%
SOD3
Elevated extracellular superoxide dismutase,
important for scavenger of superoxide anion
NewbornDx™Coverage: 81%
SNTA1
Long QT syndrome
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes)
NewbornDx™Coverage: 94%
SNRPN
Prader-Willi syndrome
hypotonia, feeding difficulties, obesity, motor and language delay, hypogonadism, genital hypoplasia
NewbornDx™Coverage: 100%
SNRPB
Cerebrocostomandibular syndrome
severe micrognathia, rib defects, mental retardation
NewbornDx™Coverage: 99%
SNIP1
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
severe psychomotor retardation, intractable seizures, dysmorphic facial features, a 'lumpy' skull surface, hypotonia, poor feeding, nystagmus, absent tendon reflexes
NewbornDx™Coverage: 100%
SNAP29
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
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%
SNAP25
Congenital myasthenic syndrome
weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 99%
SNAI2
Piebaldism/Waardenburg syndrome
absent pigmentation of medial forehead and eyebrows, white forelock, hyperpigmented borders, heterochromia irides
NewbornDx™Coverage: 100%
SMS
Smith-Magenis syndrome
feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, generalized lethargy, mild-to-moderate intellectual disability, sleep disturbance, stereotypies, maladaptive and self-injurious behaviors, facial dysmorphism
NewbornDx™Coverage: 99%
SMPD1
Niemann-Pick disease
hepatosplenomegaly, failure to thrive, psychomotor regression, interstitial lung disease, cherry-red spot
NewbornDx™Coverage: 100%
SMC3
Cornelia de Lange syndrome
severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature, small hands, dysmorphic facial features, postnatal growth retardation
NewbornDx™Coverage: 86%
SMC1A
Cornelia de Lange syndrome
severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature, small hands, dysmorphic facial features, postnatal growth retardation
NewbornDx™Coverage: 100%
SMARCE1
Coffin-Siris syndrome
hypoplasia of fifth digits/nails, dysmorphic facial features, hirsutism, feeding problems, hypotonia, brain malformations
NewbornDx™Coverage: 98%
SMARCB1
Coffin-Siris syndrome
hypoplasia of fifth digits/nails, dysmorphic facial features, hirsutism, feeding problems, hypotonia, brain malformations
NewbornDx™Coverage: 100%
SMARCAL1
Schimke immunoosseous dysplasia
spondyloepiphyseal dysplasia, numerous lentigines, progressive immune defect, immune-complex nephritis leading to death
NewbornDx™Coverage: 100%
SMARCA4
Coffin-Siris syndrome
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%
SMARCA2
Nicolaides-Baraitser syndrome
IUGR, failure to thrive, dysmorphic facial features, cryptorchidism, prominent interphalangeal joints, short phalanges, wringkly skin, severe mental retardation, seizures
NewbornDx™Coverage: 98%
SMAD9
Primary pulmonary arterial hypertension
pulmonary artery hypertension, progressive, incomplete penetrance
NewbornDx™Coverage: 100%
SMAD6
Aortic valve disease
congenital cardiovascular malformation
NewbornDx™Coverage: 95%
SMAD4
Juvenile polyposisMyhre syndrome
mental retardation, dysmorphic facial features, microcephaly, blepharophimosis, short stature, iliac hypoplasia, brachydactyly, flattened vertebrae, thickened calvaria
NewbornDx™Coverage: 100%
SMAD3
Loeys-Dietz syndrome
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%
SLX4
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
SLURP1
Meleda disease
congenital symmetrical cornification of the palms and soles
NewbornDx™Coverage: 100%
SLIT3
Congenital diaphragmatic hernia
congenital diaphragmatic hernia
NewbornDx™Coverage: 99%
SLC9A6
Christianson syndrome
microcephaly, severe global developmental delay, hypotonia, developmental regression, tonic-clonic seizures, hyperkinetic movements, cerebellar atrophy, deep sunken eyes
NewbornDx™Coverage: 94%
SLC7A9
Cystinuria
urinary tract infections, nephrolithiasis of the kidney, ureter, bladder, elevated urinary cystine, lysine, arginine, ornithine
NewbornDx™Coverage: 100%
SLC7A7
Lysinuric protein intolerance
vomiting, diarrhea, failure to thrive, hepatomegaly, osteopenia, osteoporosis, muscle weakness, short stature, pulmonary alveolar proteinosis
NewbornDx™Coverage: 100%
SLC6A8
Cerebral creatine deficiency syndrome
developmental delay, hypotonia, seizures, lack of speech, behavorial problems, microcephaly, mid-face hypoplasia, constipation, elevated plasma and urine creatine
NewbornDx™Coverage: 98%
SLC6A5
Hyperekplexia
neonatal hypertonia, exaggerated startle response to tactile or acoustic stimuli, life-threatening neonatal apnea episodes
NewbornDx™Coverage: 100%
SLC6A3
Infantile parkinsonism-dystonia
hyperkinesia with orolingual and limb dyskinesia, dystonia, chorea
NewbornDx™Coverage: 100%
SLC6A1
Myoclonic-atonic epilepsy
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%
SLC52A3
Brown-Vialetto-Van Laere syndrome
hearing loss, weakness of limbs and neck, bulbar weakness leading to feeding difficulties, balance and gait problems, dyspnea or stridor
NewbornDx™Coverage: 100%
SLC52A2
Brown-Vialetto-Van Laere syndrome
hearing loss, weakness of limbs and neck, bulbar weakness leading to feeding difficulties, balance and gait problems, dyspnea or stridor
NewbornDx™Coverage: 100%
SLC52A1
Riboflavin deficiency
poor suck, hypoglycemia, metabolic acidosis
NewbornDx™Coverage: 100%
SLC4A4
Renal tubular acidosis, proximal, with ocular abnormalities
proximal renal tubular acidosis, renal bicarbonate, wasting, eye abnormalities, growth retardation, hyperchloremic acidosis
NewbornDx™Coverage: 99%
SLC4A1
Distal renal tubular acidosis
short stature, failure to thrive, hepatosplenomegaly, nephrocalcinosis, distal renal tubular acidosis, rachitic bone changes
NewbornDx™Coverage: 100%
SLC46A1
Hereditary folate malabsorption
failure to thrive, megaloblastic anemia, diarrhea, developmental delay, seizures, ataxia, thrombocytopenia, leukopenia, low erythrocyte folate concentration, low CSF folate
NewbornDx™Coverage: 100%
SLC3A1
Cystinuria
urinary tract infections, nephrolithiasis of the kidney, ureter, bladder, elevated urinary cystine, lysine, arginine, ornithine
NewbornDx™Coverage: 100%
SLC39A4
Acrodermatitis enteropathica
growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea
NewbornDx™Coverage: 100%
SLC39A13
Spondylocheirodysplasia
postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, finely wrinkled palms, atrophy of the thenar muscles, tapering fingers, thin, hyperelastic skin, hypermobile small joints, mild-to-moderate platyspondyly, mild-to-moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, broad metaphyses
NewbornDx™Coverage: 100%
SLC37A4
Glycogen storage disease
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%
SLC35D1
Schneckenbecken dysplasia
lethal short-limbed skeletal dysplasia with platyspondylia
NewbornDx™Coverage: 83%
SLC35C1
Congenital disorder of glycosylation
severe growth and developmental delay, microcephaly, hypotonia, distinctive cranofacial features, recurrent bacterial infections
NewbornDx™Coverage: 100%
SLC35A3
Arthrogryposis, mental retardation, and seizures
microcephaly, microretrognathia, joint contractures, hip dislocations, knee dislocation, hypotonia, abnormal distal phalanges, global developmental delay, absence seizures
NewbornDx™Coverage: 97%
SLC35A2
Congenital disorder of glycosylation
early-onset encephalopathy
NewbornDx™Coverage: 99%
SLC35A1
Congenital disorder of glycosylation
macrothrombocytopenia, neutropenia, immunodeficiency
NewbornDx™Coverage: 98%
SLC34A3
Hypophosphatemic rickets
hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, bone pain
NewbornDx™Coverage: 100%
SLC34A1
Fanconi syndromeHypophosphatemic nephrolithiasis/osteoporosisIdiopathic infantile hypercalcemia
rickets, osteopenia, marked hypercalciuria, generalized proximal tubulopathy, renal phosphate wasting
NewbornDx™Coverage: 100%
SLC33A1
Congenital cataracts, hearing loss, and neurodegeneration
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%
SLC2A2
Fanconi-Bickel syndrome
hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose
NewbornDx™Coverage: 100%
SLC2A10
Arterial tortuosity syndrome
tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, diffuse tortuosity of the carotids and intracranial arteries
NewbornDx™Coverage: 100%
SLC2A1
DystoniaGlucose transporter deficiency
epilepsy, developmental delay, intellectual disability, postnatal microcephaly, spasticity, ataxia, lethargy, myoclonus
NewbornDx™Coverage: 100%
SLC29A3
Histiocytosis-lymphadenopathy plus syndrome
histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, deafness
NewbornDx™Coverage: 99%
SLC27A5
Hepatic bile acid conjugation
neonatal cholestasis, liver disease
NewbornDx™Coverage: 100%
SLC27A4
Congenital ichthyosis
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%
SLC26A4
Pendred syndromeEnlarged vestibular aqueduct
congenital neurosensory deafness, cochlear malformation, goiter, thyroid dysfunction
NewbornDx™Coverage: 95%
SLC26A3
Congenital diarrhea
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%
SLC26A2
AchondrogenesisMultiple epiphyseal dysplasiaDiastrophic dysplasiaAtelosteogenesis
malformations of the hands, feet, knees, scoliosis, disorder of cartilage and bone development
NewbornDx™Coverage: 100%
SLC25A4
Mitochondrial DNA depletion syndromeProgressive external ophthalmoplegia
progressive hypertrophic cardiomyopathy, generalized skeletal myopathy
NewbornDx™Coverage: 100%
SLC25A38
Sideroblastic anemia
anemia, microcystosis, hypochromia, ringed sideroblasts on bone marrow aspirate, increased serum ferritin
NewbornDx™Coverage: 100%
SLC25A3
Mitochondrial phosphate carrier deficiency
hypertrophic cardiomyopathy, cyanosis, severe hypotonia, failure to thrive
NewbornDx™Coverage: 100%
SLC25A22
Epileptic encephalopathy
erratic refractory seizures, usually myoclonic, death within 1-2 years, hypotonia
NewbornDx™Coverage: 100%
SLC25A20
Carnitine-acylcarnitine translocase deficiency
breathing problems, seizures, arrhythmia, hypoglycemia, hyperammonemia, hepatomegaly, cardiomyopathy, rhabdomyolysis, hypotonia
NewbornDx™Coverage: 100%
SLC25A19
Thiamine metabolism dysfunction syndromeAmish lethal microcephaly
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%
SLC25A15
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
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%
SLC25A13
Citrin deficiencyCitrullinemia, type II
poor growth, intrahepatic cholestasis, increased serum citrulline
NewbornDx™Coverage: 100%
SLC25A12
Epileptic encephalopathy
severe developmental delay, hypotonia, hypomyelination, seizures, episodic apnea, delayed myelination, cerebral volume loss
NewbornDx™Coverage: 99%
SLC25A1
Combined D-2- and L-2-hydroxyglutaric aciduria
encephalopathy, severe hypotonia, seizures, poor feeding, brain anomalies (enlarged ventricles, delayed myelination, and germinal layer cysts), lack of development
NewbornDx™Coverage: 98%
SLC22A5
Systemic primary carnitine deficiency
encephalopathy, cardiomyopathy, hepatomegaly, hypotonia, hypoglycemia, failure to thrive, gross motor delay
NewbornDx™Coverage: 100%
SLC19A3
Thiamine metabolism dysfunction syndrome
episodic encephalopathy, often triggered by febrile illness
NewbornDx™Coverage: 100%
SLC19A2
Thiamine-responsive megaloblastic anemia syndrome
megaloblastic anemia, diabetes mellitus, sensorineural deafness
NewbornDx™Coverage: 100%
SLC17A5
Sialic acid storage disorder
hypotonia, cerebellar ataxia, mental retardation, visceromegaly, coarse features
NewbornDx™Coverage: 96%
SLC16A2
Allan-Herndon-Dudley syndrome
microcephaly, elongated face, abnormal eye movements, poor feeding, joint contractures, hypotonia, severe global developmental delay, hyperreflexia
NewbornDx™Coverage: 93%
SLC16A1
Monocarboxylate transporter deficiency
poor feeding, cyclic vomiting, mild-to-moderate intellectual disability, ketoacidosis, ketotic hypoglycemia, ketonuria
NewbornDx™Coverage: 100%
SLC13A5
Epileptic encephalopathy
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%
SLC12A6
Andermann syndrome
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%
SLC12A5
Epileptic encephalopathy
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%
SLC12A1
Bartter syndrome
renal tubular hypokalemic alkalosis
NewbornDx™Coverage: 99%
SLC10A2
Congenital bile acid synthesis defect
poor growth, failure to thrive, chronic watery diarrhea, steatorrhea, increased fecal bile acid
NewbornDx™Coverage: 100%
SKI
Shprintzen-Goldberg syndrome
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%
SIX5
Branchiootorenal spectrum disorders
hearing loss, structural anomalies of inner, middle and outer ear, branchial fistulas or cysts, renal anoamlies
NewbornDx™Coverage: 91%
SIX3
Holoprosencephaly
monoventricle, fused ventricles, microcephaly, seizures, global developmental delay, ocular hypotelorism, central incisor, facial dysmorphism
NewbornDx™Coverage: 100%
SIX2
Non-syndromic hearing lossColobomatous macrophthalmia with microcornea
colobomas, high myopia
NewbornDx™Coverage: 100%
SIX1
Non-syndromic hearing lossBrachiootic syndrome
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%
SIL1
Marinesco-Sjogren syndrome
congenital cataracts, cerebellar ataxia, progressive muscle weakness, delayed psychomotor development, short stature, hypergonadotropic hypogonadism
NewbornDx™Coverage: 100%
SIK1
Epileptic encephalopathy
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%
SHOX
Langer mesomelic dysplasia
severe limb aplasia or severe hypoplasia of the ulna and fibula, thickened and curved radius and tibia
NewbornDx™Coverage: 83%
SHOC2
Noonan-like syndrome with loose anagen hair
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%
SHH
MicrophthalmiaHoloprosencephaly
hydronephrosis, cyclopia, ocular hypotelorism, single brain ventricle midface hypoplasia, holoprosencephaly
NewbornDx™Coverage: 100%
SHANK3
Phelan-McDermid syndrome
neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior
NewbornDx™Coverage: 91%
SH3PXD2B
Frank-ter Haar syndrome
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%
SGSH
Mucopolysaccharidosis, type III
claw hand, visceromegaly, little or no corneal clouding, seizures, coarse facies, dense calvaria
NewbornDx™Coverage: 97%
SGCE
Myoclonic dystonia
myoclonus, dystonia
NewbornDx™Coverage: 91%
SFXN4
Combined oxidative phosphorylation deficiency
growth retardation, visual impairment, macrocytic anemia
NewbornDx™Coverage: 93%
SFTPD
Pulmonary surfactant metabolism dysfunctionRespiratory distress syndrome in premature infants
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli
NewbornDx™Coverage: 100%
SFTPC
Pulmonary surfactant metabolism dysfunction
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli
NewbornDx™Coverage: 100%
SFTPB
Pulmonary surfactant metabolism dysfunction
failure to thrive, severe respiratory distress, neonatal respiratory failure, tachypnea, apnea, abnormalities of alveoli
NewbornDx™Coverage: 95%
SF3B4
Acrofacial dysostosis
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%
SETD5
Syndromic mental retardation
moderate to severe intellectual disability, delayed psychomotor development in infancy, poor speech development, dysmorphic features
NewbornDx™Coverage: 100%
SETBP1
Syndromic mental retardationSchinzel-Giedion midface retraction syndrome
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%
SERPINI1
Familial encephalopathy with neuroserpin inclusion bodies
progressive myoclonic epilepsy, aggressive behavior, intellectual decline
NewbornDx™Coverage: 97%
SERPINH1
Osteogenesis Imperfecta
multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, blue sclera
NewbornDx™Coverage: 100%
SERPING1
Hereditary angioedemaHereditary C1 esterase inhibitor deficiency
recurrent episodes of severe swelling of the limbs, face, intestinal tract, and airway
NewbornDx™Coverage: 100%
SERPINF1
Osteogenesis Imperfecta
bone fragility, low bone mass, risk of fractures, vertebral compression fractures
NewbornDx™Coverage: 100%
SERPINC1
Hereditary antithrombin deficiency
deep vein thrombosis, pulmonary embolism
NewbornDx™Coverage: 100%
SERPINA1
Alpha-1-antitrypsin deficiency
chronic obstructive pulmonary disease, liver disease
NewbornDx™Coverage: 100%
SERAC1
3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like Syndrome
elevated urine levels of 3-methylglutaconic acid, progressive sensorineural hearing loss, encephalopathy, failure to thrive, hypotonia, dystonia, hypoglycemia, developmental delay
NewbornDx™Coverage: 100%
SEPSECS
Pontocerebellar hypoplasia
progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, variable seizures
NewbornDx™Coverage: 97%
SEMA3E
CHARGE syndrome
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%
SECISBP2
Thyroid dyshormonogenesis
short status, delayed bone age, elevated TSH during neonatal period with normal T4
NewbornDx™Coverage: 96%
SEC23B
Congenital dyserythropoietic anemia
anemia, ineffective erythropoiesis, hemolysis, erythroblast morphologic abnormalities, jaundice, splenomegaly, increased serum unconjugated bilirubin
NewbornDx™Coverage: 97%
SDHD
PheochromocytomaMitochondrial complex II deficiencyIntestinal carcinoid tumorsParaganglioma with or without deafness
progressive encephalomyopathy with dementia, myoclonic seizures, short stature, complete external ophthalmoplegia, pigmentary retinopathy, ataxia
NewbornDx™Coverage: 80%
SDHB
Mitochondrial complex II deficiencyCowden syndrome/Gastric stromal sarcoma/Paraganglioma/Pheochromocytoma/Renal cell carcinoma
risk for various types of tumors
NewbornDx™Coverage: 100%
SDHAF1
Mitochondrial complex II deficiency
neonatal hypotonia, muscle weakness, cardiomyopathy, ptosis, regression in infants, decreased vision, hyperreflexia, spasticity, ataxia, lactic acidosis
NewbornDx™Coverage: 100%
SDCCAG8
CiliopathySenior-Loken syndrome
end-stage renal disease, obesity, short stature, mild cognitive impairment, retinal degeneration
NewbornDx™Coverage: 89%
SCO2
Cardioencephalomyopathy
cardiomyopathy, abnormal breathing pattern, nystagmus, gyral abnormalities
NewbornDx™Coverage: 100%
SCO1
Mitochondrial complex IV deficiency
poor feeding, failure to thrive, progressive hypotonia, hepatomegaly, increased blood lactate, alanine, and transaminases, cardiac hypertrophy
NewbornDx™Coverage: 100%
SCNN1G
Pseudohypoaldosteronism
renal salt wasting, high concentrations of sodium in sweat, stool, and saliva
NewbornDx™Coverage: 100%
SCNN1B
Pseudohypoaldosteronism
renal salt wasting, high concentrations of sodium in sweat, stool, and saliva
NewbornDx™Coverage: 100%
SCNN1A
Pseudohypoaldosteronism
renal salt wasting, high concentrations of sodium in sweat, stool, and saliva
NewbornDx™Coverage: 100%
SCN9A
Familial epilepsy
generalized epilepsy with febrile seizures
NewbornDx™Coverage: 98%
SCN8A
Epileptic encephalopathyCognitive impairment with or without cerebellar ataxia
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%
SCN5A
Sick sinus syndromeLong QT syndromeDilated cardiomyopathyBrugada syndromeFamilial atrial fibrillationNonprogressive heart block
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%
SCN4B
Long QT syndromeFamilial atrial fibrillation
prolongation of corrected QT interval, long isoelectric ST segment, late-onset T wave, atrial fibrillation, atrioventricular node block
NewbornDx™Coverage: 100%
SCN4A
Hyperkalemic periodic paralysisParamyotonia congenita
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%
SCN2A
Epileptic encephalopathyBenign familial epilepsy
mild cerebral atrophy with wider left lateral ventricle, severe intellectual and psychomotor retardation
NewbornDx™Coverage: 97%
SCN1B
Brugada syndromeNonspecific cardiac conduction defect
ST segment elevation in the right precordial electrocardiogram leads
NewbornDx™Coverage: 95%
SCN1A
Familial epilepsy
early-onset isolated febrile seizures, generalized epilepsy with febrile seizures
NewbornDx™Coverage: 99%
SCN11A
Hereditary sensory and autonomic neuropathyFamilial episodic pain syndrome
intense episodic pain (mainly distal lower extremities), episodes dimish with age
NewbornDx™Coverage: 99%
SCARF2
Van den Ende-Gupta syndrome
severe contractual arachnodactyly, distinctive facial dysmorphism, triangular face, malar hypoplasia, narrow nose, everted lips, blepharophimosis
NewbornDx™Coverage: 93%
SC5D
Lathosterolosis
cholesterol biosynthesis defect, multiple congenital anomalies
NewbornDx™Coverage: 100%
SBDS
Shwachman-Diamond Syndrome
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%
SATB2
Glass syndrome
intellectual disability (variable severity), dysmorphic facial features, micrognathia, downslanting palpebral fissures, cleft palate, crowded teeth, seizures, joint laxity, arachnodactyly, happy demeanor
NewbornDx™Coverage: 100%
SARS2
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, delayed development
NewbornDx™Coverage: 100%
SAR1B
Chylomicron retention disease
severe fat malabsorption associated with failure to thrive in infancy
NewbornDx™Coverage: 92%
SAMHD1
Aicardi-Goutieres syndrome
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%
SALL4
Acro-renal-ocular syndromeDuane-radial ray syndromeHolt-Oram syndrome
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%
SALL1
Townes-Brocks syndrome
imperforate anus, dysplastic ears, sensorineural or conductive hearing loss, triphalangeal thumbs, preaxial polydactyly, hypoplasia of the thumbs(rare), end-stage renal disease, renal structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux), congenital heart disease, foot malformations, genitourinary malformations, intellectual disability
NewbornDx™Coverage: 100%
R
RYR1
Central core diseaseCongenital neuromuscular disease with uniform type 1 fiberKing-Denborough syndromeMalignant hyperthermia susceptibilityMinicore myopathy
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%
RUNX2
Cleidocranial dysplasia
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%
RUNX1
Leukemia, acuteFamilial platelet disorder
epistaxis, easy bruisability, thrombocytopenia, abnormal platelet aggregation, prolonged bleeding time, normal platelet size, risk of myeloid malignancy
NewbornDx™Coverage: 99%
RTTN
Microcephaly, short stature, and polymicrogyria with seizures
microcephaly, short stature, polymicrogyria, moderate to severe mental retardation, poor speech, dysarthria, seizures
NewbornDx™Coverage: 97%
RTEL1
Dyskeratosis congenitaTelomere-related pulmonary fibrosis, bone marrow failure
nail dystrophy, leukoplakia, bone marrow failure, severe B-cell immunodeficiency, intrauterine growth retardation, growth retardation, microcephaly, cerebellar hypoplasia, esophageal dysfunction
NewbornDx™Coverage: 97%
RSPH9
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
RSPH4A
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 99%
RSPH3
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 99%
RSPH1
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
RRM2B
Mitochondrial DNA depletion syndrome
feeding difficulties, failure to thrive, hypotonia, lactic acidosis, massive aminoaciduria consistent with a renal proximal tubulopathy, progressive muscle weakness
NewbornDx™Coverage: 100%
RRAS
Noonan syndrome
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%
RPSA
Congenital isolated asplenia
severe bacterial infections in early childhood
NewbornDx™Coverage: 100%
RPS7
Diamond-Blackfan anemia
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%
RPS6KA3
Coffin-Lowry syndrome
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%
RPS29
Diamond-Blackfan anemia
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%
RPS28
Diamond-Blackfan anemia
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
Diamond-Blackfan anemia
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
Diamond-Blackfan anemia
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
Diamond-Blackfan anemia
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%
RPS10
Diamond-Blackfan anemia
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%
RPN2
Congenital disorder of glycosylation
involved in N-glycan biosynthesis
NewbornDx™Coverage: 99%
RPL5
Diamond-Blackfan anemia
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%
RPL35A
Diamond-Blackfan anemia
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%
RPL26
Diamond-Blackfan anemia
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%
RPL15
Diamond-Blackfan anemia
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%
RPL11
Diamond-Blackfan anemia
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%
RPGRIP1L
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 94%
RPGRIP1
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 99%
RPE65
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 99%
ROR2
Robinow syndrome
frontal bossing, hypertelorism, broad nose, short-limbed dwarfism, vertebral segmentation, genital hypoplasia
NewbornDx™Coverage: 100%
ROGDI
Kohlschutter-Tonz syndrome
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%
ROBO3
Gaze palsy, horizontal, with progressive scoliosis
horizontal gaze palsy, progressive external ophthalmoplegia, severe scoliosis
NewbornDx™Coverage: 99%
RNASET2
Leukoencephalopathy
extensive cysts within the anterior temporal lobes, ventricular enlargement, white matter disease, severe intellectual impairment, motor retardation, spasticity, microcephaly (variable)
NewbornDx™Coverage: 99%
RNASEH2C
Aicardi-Goutieres syndrome
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
Aicardi-Goutieres syndrome
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%
RNASEH2A
Aicardi-Goutieres syndrome
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%
RMRP
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
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%
RMND1
Combined oxidative phosphorylation deficiency
neonatal hypotonia, lactic acidosis, respiratory insufficiency, foot deformities, seizures, profound floppiness
NewbornDx™Coverage: 91%
RIT1
Noonan syndrome
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%
RIPK4
Popliteal pterygium syndrome
multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, syndactyly
NewbornDx™Coverage: 100%
RFX6
Mitchell-Riley syndrome
neonatal diabetes, pancreatic hypoplasia, intestinal atresia, gallbladder aplasia or hypoplasia
NewbornDx™Coverage: 98%
RFT1
Congenital disorder of glycosylation
severe developmental delay, hypotonia, visual disturbances, seizures, feeding difficulties, sensorineural hearing loss, inverted nipples, microcephaly
NewbornDx™Coverage: 91%
RET
Central hypoventilation syndromeMedullary thyroid carcinomaMultiple endocrine neoplasia, type 2PheochromocytomaRenal agenesis
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, identifiable brainstem lesion
NewbornDx™Coverage: 100%
RELN
Lissencephaly
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%
RECQL4
Rothmund-Thomson syndrome
skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, increased risk of malignant disease
NewbornDx™Coverage: 99%
RBM8A
Thrombocytopenia absent radius syndrome
reduction in the number of platelets and absence of the radius
NewbornDx™Coverage: 100%
RBM10
TARP syndrome
Robin sequence, talipes equinovarus, congenital cardiac defects, liver failure, kidney failure, syndactyly
NewbornDx™Coverage: 100%
RBCK1
Polyglucosan body myopathy with or without immunodeficiency
progressive proximal leg muscle weakness, difficulty walking, progressive dilated cardiomyopathy, recurrent infections, immunodeficiency, hyperinflammatory state in very early childhood
NewbornDx™Coverage: 99%
RBBP8
Seckel syndrome
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%
RASGRP2
Platelet-type bleeding disorder
mucocutaneous bleeding (starts at 18 months), epistaxis, hematomas, bleeding after tooth extraction, menorrhagia
NewbornDx™Coverage: 99%
RASA2
Noonan syndrome
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%
RASA1
Capillary-arteriovenous malformation
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%
RARS2
Pontocerebellar hypoplasia
abnormally small cerebellum and brainstem, severe developmental delay
NewbornDx™Coverage: 94%
RARB
Microphthalmia
bilateral microphthalmia, pulmonary hypoplasia, diaphragmatic hernia, sparse hair, brachycephaly, deep-set orbits, short palpebral fissures, flat nasal bridge
NewbornDx™Coverage: 100%
RAPSN
Congenital myasthenic syndromeFetal akinesia deformation sequence
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 100%
RANBP2
Acute necrotizing encephalopathy
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%
RAI1
Smith-Magenis syndrome
feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, generalized lethargy, mild-to-moderate range of intellectual disability, sleep disturbance, stereotypies, maladaptive and self-injurious behaviors, facial dysmorphism
NewbornDx™Coverage: 100%
RAG2
Severe combined immunodeficiency
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%
RAG1
Severe combined immunodeficiencyOmenn syndrome
generalized erythrodermia, lymphadenopathy, alopecia, hepatomegaly, splenomegaly
NewbornDx™Coverage: 100%
RAF1
LEOPARD syndromeNoonan syndrome
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%
RAD51C
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
RAD51
Congenital mirror movements
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%
RAC2
Neutrophil immunodeficiency syndrome
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%
RAB3GAP2
Warburg micro syndromeMartsolf syndrome
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%
RAB3GAP1
Warburg micro syndrome
microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, corpus callosum hypoplasia, severe mental retardation, spastic diplegia, hypogonadism, failure to thrive
NewbornDx™Coverage: 98%
RAB33B
Smith-McCort dysplasia
short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, small pelvis with a lace-like appearance of iliac crests, mental retardation
NewbornDx™Coverage: 100%
RAB27A
Griscelli syndrome
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%
RAB23
Carpenter syndrome
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%
RAB18
Warburg micro syndrome
microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, corpus callosum hypoplasia, severe mental retardation, spastic diplegia, hypogonadism, failure to thrive
NewbornDx™Coverage: 84%
Q
QDPR
BH4-deficient hyperphenylalaninemia
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%
QARS
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
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%
P
PYGM
McArdle disease
exercise-induced muscle cramps and pain, myoglobinuria, increased resting serum creatine kinase
NewbornDx™Coverage: 100%
PYGL
Glycogen storage disease
hypoglycemia, hepatomegaly, growth retardation in childhood, increased liver glycogen content, no lactic acidosis
NewbornDx™Coverage: 100%
PYCR2
Hypomyelinating leukodystrophy
progressive postnatal microcephaly, hypomyelination, severely delayed psychomotor development, poor growth, truncal hypotonia, appendicular hypertonia, hyperreflexia, severe muscle wasting
NewbornDx™Coverage: 100%
PYCR1
Cutis laxa
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%
PUS1
Mitochondrial myopathy and sideroblastic anemia
myopathy, lactic acidosis, sideroblastic anemia, failure to thrive (some cases), intellectual disability, motor delay
NewbornDx™Coverage: 100%
PURA
Syndromic mental retardation
neonatal hypotonia, severely delayed psychomotor development, early-onset feeding difficulties, significant respiratory insufficiency, seizures (myoclonic, generalized)
NewbornDx™Coverage: 93%
PTS
6-pyruvoyltetrahydropterin synthase deficiency
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%
PTRF
Generalized congenital lipodystrophy
muscular dystrophy, cardiac conduction anomalies
NewbornDx™Coverage: 100%
PTPRC
Severe combined immunodeficiency
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%
PTPN11
Noonan syndrome
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%
PTHLH
Brachydactyly
short stature, short metacarpals III-V, short metatarsals, learning disability (some cases)
NewbornDx™Coverage: 97%
PTH1R
Chondrodysplasia punctataEiken syndromeMetaphyseal chondrodysplasia
short limbs, polyhydramnios, hydrops fetalis, facial anomalies (mid-facial hypoplasia), increased bone density, advanced skeletal maturation, death during infancy
NewbornDx™Coverage: 98%
PTF1A
Pancreatic agenesisNeonatal diabetes with cerebellar agenesis
microcephaly, irregular breathing, episodic apnea, pancreatic agenesis or hypoplasia, seizures, cerebellar hypoplasia or agenesis, neonatal diabete mellitus
NewbornDx™Coverage: 93%
PTEN
Bannayan-Riley-Ruvalcaba syndromeCowden syndromeProteus syndromePTEN-related cardiovascular disease
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%
PTDSS1
Lenz-Majewski hyperostotic dwarfism
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%
PTCH2
Basal cell nevus syndrome
multiple nevoid basal-cell epitheliomas, jaw cysts, bifid rib
NewbornDx™Coverage: 98%
PTCH1
Basal cell nevus syndrome
multiple nevoid basal-cell epitheliomas, jaw cysts, bifid rib
NewbornDx™Coverage: 99%
PSTPIP1
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
intermittent sterile pauciarticular peripheral erosive arthritis, pyoderma gangrenosum, severe cystic acne, IBS
NewbornDx™Coverage: 99%
PSPH
Phosphoserine phosphatase deficiency
developmental delay, intellectual disability, cerebral atrophy, hypertonia, poor growth (1 case), microcephaly (rare)
NewbornDx™Coverage: 100%
PSAT1
Neu-Laxova syndromePhosphoserine aminotransferase deficiency
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%
PSAP
Metachromatic leukodystrophy
infantile onset severe motor deterioration, hypotonia, weakness, CNS demyelination, polyneuropathy, metachromatic deposits in macrophages
NewbornDx™Coverage: 100%
PRX
Charcot-Marie-Tooth disease/Dejerine-Sottas Syndrome
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%
PRSS56
Microphthalmia
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%
PRRT2
Benign familial epilepsyFamilial paroxysmal kinesigenic dyskinesia
episodic kinesigenic dyskinesia, episodic involuntary movements (dyskinesia, choreoathetosis, dystonia), orofacial dyskinesia, incomplete penetrance, favorable response to anticonvulsants
NewbornDx™Coverage: 100%
PRPS1
Non-syndromic hearing lossCharcot-Marie-Tooth diseasePhosphoribosylpyrophosphate synthetase superactivityArts syndrome
hyperuricemia, neurodevelopmental abnormalities, sensorineural deafness
NewbornDx™Coverage: 99%
PROS1
Thrombophilia
deep venous thrombosis, pulmonary embolism, purpura fulminans
NewbornDx™Coverage: 94%
PROP1
Combined pituitary hormone deficiency
neonatal hypoglycemia, hypoglycemic seizures, low or absent growth hormone, low or absent TSH
NewbornDx™Coverage: 100%
PROKR2
Hypogonadotropic hypogonadism
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%
PRODH
Hyperprolinemia
relatively benign condition (most cases), severe condition with seizures and mental retardation has been reported, elevated plasma and urinary proline
NewbornDx™Coverage: 93%
PROC
Thrombophilia
severe neonatal disorder or as a milder disorder with late-onset thrombophilia, neonatal vitreous hemorrhages, superficial thrombophlebitis, deep venous thrombosis, neonatal purpura fulminans, developmental delay, seizures, recurrent venous thrombosis
NewbornDx™Coverage: 100%
PRKCD
Autoimmune lymphoproliferative syndrome
B-cell deficiency, severe autoimmunity, recurrent infections, hepatosplenomegaly, generalized lymphadenopathy, autoimmune nephrotic syndrome
NewbornDx™Coverage: 100%
PRKAR1A
Carney complex
skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, schwannomas
NewbornDx™Coverage: 98%
PRKAG2
Glycogen storage diseaseWolff-Parkinson-White syndrome
macroglossia, cardiomegaly, neonatal hypoglycemia, short PR interval, persistent bradycardia, vacuolar myopathy, glycogen in muscle, renomegaly, pulmonary edema, ascites
NewbornDx™Coverage: 90%
PRICKLE1
Progressive myoclonic epilepsy
progressive myoclonic epilepsy, motor delay, ataxia before onset of seizures, normal cognition, tremors
NewbornDx™Coverage: 100%
PRF1
Familial hemophagocytic lymphohistiocytosisNon-Hodgkin lymphoma
proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly
NewbornDx™Coverage: 100%
PREPL
Hypotonia-cystinuria syndrome
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%
PQBP1
Renpenning syndrome
microcephaly, short stature, small testes, dysmorphic facies
NewbornDx™Coverage: 100%
PPT1
Neuronal ceroid lipofuscinosis
infantile onset, progressive intellectual and motor deterioration, seizures, early death, visual loss due to retinal degeneration
NewbornDx™Coverage: 100%
PPIB
Osteogenesis Imperfecta
short limb dwarfism, white to gray sclerae, numerous multiple fractures present at birth, bowing of limbs, kyphosis, scoliosis
NewbornDx™Coverage: 100%
POU1F1
Combined pituitary hormone deficiency
severe growth retardation (infancy), jaundice, macroglossia, skull anomalies, facial dysmorphism (prominent forehead, midface hypoplasia, depressed nasal bridge, hypotonia)
NewbornDx™Coverage: 94%
PORCN
Focal dermal hypoplasia
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%
POR
Antley-Bixler syndrome
radiohumeral synostosis, midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system)
NewbornDx™Coverage: 100%
POP1
Anauxetic dysplasia
bone-restricted disorder, generalized metaphyseal dysplasia and severe brachydactyly, severe short stature
NewbornDx™Coverage: 0%
POMT2
Congenital muscular dystrophy
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%
POMT1
Congenital muscular dystrophy
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%
POMP
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
congential moderate nonblistering ichthyosis, linear hyperkeratosis without evidence of Koebner phenomenon, condition improved on oral etretinate therapy
NewbornDx™Coverage: 94%
POMK
Muscular dystrophy-dystroglycanopathy
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%
POMGNT2
Muscular dystrophy-dystroglycanopathy
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 100%
POMGNT1
Muscular dystrophy-dystroglycanopathy
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 100%
POMC
Proopiomelanocortin deficiency
normal birth weight, excessive weight gain and obesity by age 1, hyperphagia, low levels of ACTH, hypoglycemia, hyperbilirubinemia
NewbornDx™Coverage: 100%
POLR3B
Hypomyelinating leukodystrophy
childhood-onset hypomyelinating leukodystrophy, normal early infantile development, ataxia, oligodontia and/or hypogonadotropic hypogonadism
NewbornDx™Coverage: 98%
POLR3A
Hypomyelinating leukodystrophy
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%
POLR1D
Treacher Collins syndrome
hypoplasia of the zygomatic bones and mandible, external ear abnormalities, coloboma of the lower eyelid, absence of the lower eyelashes, preauricular hair displacement onto the cheeks
NewbornDx™Coverage: 100%
POLR1C
Hypomyelinating leukodystrophyTreacher Collins syndrome
delayed psychomotor development, loss or lack of independent ambulation, abnormal cognition, tremor, ataxia, spasticity, hypomyelination, thin corpus callosum
NewbornDx™Coverage: 95%
POLG2
Progressive external ophthalmoplegia
weakness of external eye muscles, delayed psychomotor development, lactic acidosis, constipation, and liver involvement
NewbornDx™Coverage: 98%
POLG
Alpers-Huttenlocher syndromeMitochondrial recessive ataxia syndrome
severe encephalopathy with intractable epilepsy, hepatic failure
NewbornDx™Coverage: 100%
POC1A
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
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%
PNPT1
Combined oxidative phosphorylation deficiencyNon-syndromic hearing loss
choreoathetosis, dyskinesia, nonprogressive encephalopathy, global hypotonia, muscle atrophy
NewbornDx™Coverage: 82%
PNPO
Pyridoxamine 5-prime-phosphate oxidase deficiency
failure to thrive, progressive microcephaly, feeding problems, seizures, hypotonia, anemia, hypoglycemia, acidosis, myoclonus, born prematurely
NewbornDx™Coverage: 100%
PNPLA8
Hereditary myopathy with lactic acidosis
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%
PNPLA1
Congenital ichthyosis
keratinization characterized primarily by abnormal skin scaling over the whole body, collodion membrane at birth, fine greyish-white scales, palmoplantar keratoderma
NewbornDx™Coverage: 100%
PNP
Immunodeficiency
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%
PNLIP
Pancreatic Lipase Deficiency
oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease
NewbornDx™Coverage: 100%
PNKP
Ataxia-oculomotor apraxiaMicrocephaly, seizures, and developmental delay
progressive microcephaly, hypotonia, muscle atrophy, infantile onset seizures, brain malformations, simplified gyral pattern, thin corpus callosum, clinical variability
NewbornDx™Coverage: 100%
PNKD
Paroxysmal nonkinesigenic dyskinesia
brief, dystonic or choreoathetotic attacks, typically triggered by sudden movements
NewbornDx™Coverage: 100%
PMP22
Charcot-Marie-Tooth disease
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%
PMM2
Congenital disorder of glycosylation
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%
PLP1
Spastic paraplegiaPelizaeus-Merzbacher disease
nystagmus, spastic quadriplegia, ataxia, developmental delay, progressive lower extremity spasticity (usually severe)
NewbornDx™Coverage: 99%
PLOD3
Lysyl hydroxylase deficiency
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%
PLOD2
Bruck syndrome
congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, progressive scoliosis
NewbornDx™Coverage: 90%
PLOD1
Ehlers-Danlos syndrome
skin hyperextensibility, articular hypermobility, tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 100%
PLG
Dysplasminogenemia
chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation
NewbornDx™Coverage: 99%
PLEC
Epidermolysis bullosaLimb-girdle muscular dystrophy
epidermolysis bullosa simplex with pyloric atresia, severe skin blistering at birth, congenital pyloric atresia, epidermolysis bullosa simplex (Ogna type)
NewbornDx™Coverage: 100%
PLCG2
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
cutaneous urticaria, erythema, pruritis in response to cold exposure
NewbornDx™Coverage: 98%
PLCB4
Auriculocondylar syndrome
mild to severe micrognathia, cleft palate, distinctive ear malformation (separation of lobule from external ear, question mark appearance), temporomandibular joint ankylosis
NewbornDx™Coverage: 94%
PLCB1
Epileptic encephalopathy
seizures, generalized slowing of EEG, hypsarrhythmia, hyperreflexia, regression after onset of seizures, axial hypotonia, global developmental delay
NewbornDx™Coverage: 96%
PLA2G6
Neuronaxonal dystrophy
progressive iron accumulation in the basal ganglia and other regions of the brain, extrapyramidal movements
NewbornDx™Coverage: 100%
PKP2
Arrhythmogenic right ventricular dysplasia
right ventricular cardiomyopathy, fibrofatty replacement of right ventricular myocardium, venticular arrhythmia and aneurysm, syncope
NewbornDx™Coverage: 98%
PKP1
Ectodermal dysplasia/skin fragility syndrome
trauma-induced skin fragility, congenital ectodermal dysplasia affecting hair, nails, and sweat glands
NewbornDx™Coverage: 100%
PKLR
Pyruvate kinase deficiency
cholelithiasis, jaundice, chronic hemolytic anemia
NewbornDx™Coverage: 100%
PKHD1
Polycystic kidney disease
hepatomegaly, splenomegaly, present in neonatal period with enlarged echogenic kidneys, nephromegaly, hypertension, progressive periportal fibrosis
NewbornDx™Coverage: 100%
PKD2
Polycystic kidney disease
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%
PITX2
Axenfeld-Rieger syndrome
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%
PITX1
Congenital clubfoot with or without deficiency of long bones, mirror-image polydactyly
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%
PIP5K1C
Lethal congenital contracture syndrome
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%
PIK3R2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
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%
PIK3R1
ImmunodeficiencySHORT syndrome
recurrent respiratory infections, hypogammaglobulinemia
NewbornDx™Coverage: 94%
PIK3CD
Immunodeficiency
recurrent respiratory infections, hypogammaglobulinemia
NewbornDx™Coverage: 100%
PIK3CA
Megalencephaly-capillary syndrome
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%
PIGV
Hyperphosphatasia with mental retardation syndrome
intellectual disability with facial dysmorphism, seizures, consistently elevated serum alkaline phosphatase (AP) (hyperphosphatasia), brachytelephalangy
NewbornDx™Coverage: 100%
PIGT
Multiple congenital anomalies-hypotonia-seizures syndrome
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%
PIGQ
Epileptic encephalopathy
EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases
NewbornDx™Coverage: 100%
PIGO
Hypophosphatasia mental retardation syndrome
intellectual disability with facial dysmorphism, seizures, consistently elevated serum alkaline phosphatase (AP) (hyperphosphatasia)
NewbornDx™Coverage: 100%
PIGN
Multiple congenital anomalies-hypotonia-seizures syndrome
neonatal hypotonia, myoclonic seizures, congenital anomalies of CNS, cardiac and urinary system
NewbornDx™Coverage: 81%
PIGM
Glycosylphosphatidylinositol deficiency
intellectual disability, other congenital malformations, seizures, dysmorphic facial features
NewbornDx™Coverage: 100%
PIGL
CHIME syndrome
colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, ear anomalies
NewbornDx™Coverage: 99%
PIGA
Multiple congenital anomalies-hypotonia-seizures syndrome
neonatal hypotonia, myoclonic seizures, congenital anomalies of CNS, cardiac and urinary system
NewbornDx™Coverage: 100%
PIEZO2
Marden-Walker syndrome
immobile facies, blepharophimosis, micrognathia, microcephaly, midfacial hypoplasia, multiple contractures, hypotonia, arachnodactyly, developmental delay, other anomalies
NewbornDx™Coverage: 97%
PIEZO1
Dehydrated hereditary stomatocytosisHereditary lymphadema
hemolytic anemia, perinatal edema, increased reticulocyte count
NewbornDx™Coverage: 100%
PHYH
Refsum disease
anosmia, retinitis pigmentosa. Variable: neuropathy, deafness, ataxia, and ichthyosis. Onset infancy to adulthood. Risk of cardiac arrhythmia and heart failure
NewbornDx™Coverage: 95%
PHOX2B
Central hypoventilation syndrome
hypoventilation with monotonous respiratory rates and shallow breathing
NewbornDx™Coverage: 99%
PHKG2
Glycogen storage disease
hepatomegaly, glycogen storage in liver, splenomegaly, hypotonia, mild motor delay, lactic acidosis, fasting hypoglycemia
NewbornDx™Coverage: 100%
PHKB
Phosphorylase kinase deficiency of liver and muscle
postnatal onset of short stature, hepatmegaly, diarrhea, hypotonia, mild weakness
NewbornDx™Coverage: 98%
PHKA2
Glycogen storage disease
hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, hyperketosis
NewbornDx™Coverage: 96%
PHGDH
Phosphoglycerate dehydrogenase deficiencyNeu-Laxova syndrome
postnatal growth retardation, congenital microcephaly, hypogonadism, hypertonia, profound psychomotor retardation and epilepsy, dysmyelination
NewbornDx™Coverage: 100%
PHF8
Syndromic mental retardation
mild intellectual disability, cleft lip and palate, facial dysmorphism
NewbornDx™Coverage: 98%
PHF6
Borjeson-Forssman-Lehmann syndrome
microcephaly, characteristic facies, obesity, epilepsy, hypogonadism, mental deficiency
NewbornDx™Coverage: 78%
PHEX
Hypophosphatemic rickets
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%
PGM3
Congenital disorder of glycosylation
immunodeficiency, recurrent respiratory and skin infections, developmental delay, ataxia (some cases)
NewbornDx™Coverage: 95%
PGM1
Congenital disorder of glycosylation
recurrent rhabdomyolysis, fatigue, chronic hepatitis
NewbornDx™Coverage: 100%
PGK1
Phosphoglycerate kinase deficiency
hemolytic anemia, myopathy, recurrent myoglobinuria, developmental delay (some cases), liver dysfunction (some cases), severe encephalopathy (2 cases)
NewbornDx™Coverage: 100%
PGAP3
Hyperphosphatasia with mental retardation syndrome
development delay, generalized, myoclonic seizures, lack of speech, facial dysmorphism
NewbornDx™Coverage: 100%
PFKM
Glycogen storage disease
exercise intolerance, muscle cramping, exertional myopathy, compensated hemolysis, myoglobinuria
NewbornDx™Coverage: 100%
PEX7
Peroxisome biogenesis disorderRhizomelic chondrodysplasia
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX6
Neonatal adrenoleukodystrophyPeroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX5
Neonatal adrenoleukodystrophyPeroxisome biogenesis disorderZellweger syndromeInfantile refsum disease
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX3
Peroxisome biogenesis disorder
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 99%
PEX26
Peroxisome biogenesis disorder
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX2
Peroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX19
Peroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX16
Peroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX14
Peroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX13
Neonatal adrenoleukodystrophyPeroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX12
Neonatal adrenoleukodystrophyPeroxisome biogenesis disorderZellweger syndromeInfantile refsum disease
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX11B
Peroxisome biogenesis disorder
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 100%
PEX10
Neonatal adrenoleukodystrophyPeroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 98%
PEX1
Neonatal adrenoleukodystrophyPeroxisome biogenesis disorderZellweger syndrome
hypotonia, poor feeding, facial dysmorphism, seizures, liver cysts, liver dysfunction, chondrodysplasia punctata of long bones, hearing loss, retinal dystrophy
NewbornDx™Coverage: 97%
PET100
Mitochondrial complex IV deficiency
hypotonia, seizures, global developmental delay, failure to thrive, Leigh syndrome, cortical blindness
NewbornDx™Coverage: 100%
PEPD
Prolidase deficiency
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%
PDX1
Pancreatic agenesis
IUGR, failure to thrive, pancreatic agenesis or hypoplasia, exocrine pancreatic insufficiency, neonatal insulin-dependent diabetes mellitus
NewbornDx™Coverage: 100%
PDSS2
Coenzyme Q10 deficiency
neonatal pneumonia, progressive hypotonia, seizures, vomiting, nephrotic syndrome, elevated serum lactate, Leigh syndrome, CoQ10 did not improve clincial course
NewbornDx™Coverage: 92%
PDSS1
Coenzyme Q10 deficiency
early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, cardiac valvulopathy
NewbornDx™Coverage: 87%
PDP1
Pyruvate dehydrogenase phosphatase deficiency
lactic acidosis, hypotonia, respiratory distress, basal ganglia changes (Leigh syndrome)
NewbornDx™Coverage: 100%
PDHX
Pyruvate dehydrogenase E3-binding protein deficiency
lactic acidosis, hypotonia, microcephaly, dysmorphic features, developmental delay, optic atrophy
NewbornDx™Coverage: 99%
PDHB
Pyruvate dehydrogenase E1-subunit deficiency
lactic acidosis, hypotonia, severe breathing problems, developmental delay, seizures
NewbornDx™Coverage: 100%
PDHA1
Pyruvate dehydrogenase E1-subunit deficiency
lactic acidosis, hypotonia, lethargy, seizures, microcephaly, ataxia, developmental delay
NewbornDx™Coverage: 92%
PDGFRB
Kosaki overgrowth syndrome
overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, neurologic deterioration
NewbornDx™Coverage: 100%
PDGFRA
Hypereosinophilic syndrome
overproduction of eosinophils in the bone marrow, eosinophilia, tissue infiltration, organ damage
NewbornDx™Coverage: 100%
PDE6D
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
PDE5A
Essential hypertension
increase risk of cardiovascular events when given Sildenafil
NewbornDx™Coverage: 98%
PDE4D
Acrodysostosis with or without hormone resistance
short stature, severe brachydactyly, facial dysostosis, nasal hypoplasia
NewbornDx™Coverage: 99%
PCNT
Microcephalic osteodysplastic primordial dwarfism
extreme pre- and postnatal growth retardation, relative micromelia, progressive microcephaly, hand anomalies, delayed bone age, intellectual disability
NewbornDx™Coverage: 96%
PCK2
PEPCK deficiency
hypoglycemia, liver failure, fatty deposits in liver and kidneys
NewbornDx™Coverage: 100%
PCK1
Cytosolic phosphoenolpyruvate carboxykinase-1 deficiency
seizures, cerebral atrophy, hypoglycemia, optic atrophy, fatty infiltration of liver, kidney and heart, episodic apnea, severe developmental delay, cyanosis
NewbornDx™Coverage: 100%
PCDH19
Epileptic encephalopathy
seizures, behavorial manifestations, developmental regression
NewbornDx™Coverage: 99%
PCCB
Propionic acidemia
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%
PCCA
Propionic acidemia
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%
PCBD1
BH4-deficient hyperphenylalaninemia
hyperphenylalaninemia, mild and transient hypotonia, mild and transient hypertonia
NewbornDx™Coverage: 100%
PC
Pyruvate carboxylase deficiency
lactic acidosis, hypotonia, severe developmental delay, proximal renal acidosis
NewbornDx™Coverage: 100%
PBX1
Leukemia, acute
role in bone mineral density, risk of pre-B-cell acute lymphoblastic leukemia
NewbornDx™Coverage: 100%
PAX8
Congenital hypothyroidism
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%
PAX6
Aniridia, Peter anomaly
complete or partial iris hypoplasia, reduced visual acuity, nystagmus
NewbornDx™Coverage: 100%
PAX3
Craniofacial-deafness-hand syndrome
absent pigmentation of the medial forehead and eyebrows, white forelock, hyperpigmented borders surrounding the unpigmented areas
NewbornDx™Coverage: 100%
PAX2
Renal coloboma syndromeRenal hypodysplasia
renal hypodysplasia, abnormalities of optic nerve
NewbornDx™Coverage: 98%
PANK2
HARP syndrome
progressive dystonia, basal ganglia iron deposition, dysarthria, rigidity, pigmentary retinopathy
NewbornDx™Coverage: 100%
PAH
Phenylketonuria
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%
PAFAH1B1
Lissencephaly
generalized hypotonia, microcephaly, seizures, abnormal brain MRI findings
NewbornDx™Coverage: 87%
PACS1
Schuss-Hoeijmakers syndrome
facial dysmorphism, mild-to-moderate intellectual disability, hypotonia, congenital anomalies including cardiac defect, coloboma, motor delay, brain malformations, cryptorchidism
NewbornDx™Coverage: 96%
P3H1
Osteogenesis Imperfecta
white sclerae, severe growth deficiency, extreme skeletal undermineralization, bulbous metaphyses
NewbornDx™Coverage: 100%
O
OXCT1
Succinyl-CoA:3-oxoacid CoA transferase deficiency
episodic lethargy, tachypnea, severe metabolic acidosis, ketoacidotic, normal growth, developmentals delay
NewbornDx™Coverage: 98%
OTC
Ornithine transcarbamylase deficiency
normal at birth, development of poor feeding, acute neonatal encephalopathy with hyperventilation and low body temperature
NewbornDx™Coverage: 97%
OSTM1
Osteopetrosis
generalized osteosclerosis, anemia, hepatosplenomegaly
NewbornDx™Coverage: 90%
ORC6
Meier-Gorlin syndrome
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%
ORC4
Meier-Gorlin syndrome
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%
ORC1
Meier-Gorlin syndrome
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%
OPLAH
5-oxoprolinase deficiency
increased 5-oxoproline excretion in urine
NewbornDx™Coverage: 100%
OPHN1
Mental retardation with cerebellar hypoplasia and distinctive facial appearance
neonatal hypotonia with motor delay, strabismus, complex partial seizures, moderate to severe mental retardation
NewbornDx™Coverage: 95%
OPA3
Optic atrophy3-methylglutaconic aciduria
optic atrophy, nystagmus, strabismus, ataxia, chorea, spasticity, elevated 3-methylglutaconic acid
NewbornDx™Coverage: 100%
OPA1
Optic atrophy
bilateral optic nerve pallor, decreased visual acuity, visual field defects, decreased color vision
NewbornDx™Coverage: 87%
OGDH
Alpha-ketoglutarate dehydrogenase deficiency
hypotonia, congenital lactic acidosis, metabolic acidosis, hypoglycemia
NewbornDx™Coverage: 100%
OCRL
Lowe Syndrome
cataracts, hypotonia, renal tubular dysfunction
NewbornDx™Coverage: 99%
OCLN
Band-like calcification, simplified gyration, polymicrogyria
microcephaly, severe mental retardation, quadriplegia, calcification of the cerebral white matter, seizures
NewbornDx™Coverage: 97%
OBSL1
3-M syndrome
short stature, prominent heels, distinctive facial appearance
NewbornDx™Coverage: 97%
OAT
Ornithine aminotransferase deficiency
chorioretinal degeneration, progressive night blindness and peripheral vision loss, elevated plasma ornithine
NewbornDx™Coverage: 100%
N
NYX
Congenital stationary night blindness
decreased peripheral vision/night vision, nystagmus, decreased central vision
NewbornDx™Coverage: 98%
NUP62
Infantile striatonigral degeneration
choreoathetosis, abnormal eye movements, seizures, mental retardation, symmetrical degeneration of the caudate nucleus and putamen
NewbornDx™Coverage: 100%
NUBPL
Mitochondrial complex I deficiency
white matters abnormalities/lesions, myopathy, regression or episodic regression
NewbornDx™Coverage: 94%
NTRK1
Congential insensitivity to pain with anhidrosis
congenital insensitivity to pain, anhidrosis, recurrent fevers
NewbornDx™Coverage: 100%
NSUN2
Syndromic mental retardation
mild-to-moderate mental retardation, dysmorphic facial features, progressive microcephaly, long and narrow face, bushy eyebrows with synophrys
NewbornDx™Coverage: 100%
NSMF
Hypogonadotropic hypogonadism
absent or incomplete sexual maturation by age of 18 years, low levels of circulating gonadotropins and testosterone
NewbornDx™Coverage: 97%
NSDHL
CHILD syndromeCK syndrome
congenital hemidysplasia with ichythyosiform erythrodema and limb defects (lethal in hemizygous males)
NewbornDx™Coverage: 100%
NSD1
Sotos syndrome
facial gestalt, malar flushing, sparse frontotemporal hair, high bossed forehead, downslanting palpebral fissures, a long narrow face, and prominent narrow jaw, macrocephaly, hypotonia, developmental delay, overgrowth, cardiac anomalies, jaundice, poor feeding during neonatal period
NewbornDx™Coverage: 100%
NRXN1
Pitt-Hopkins syndrome
facial dysmorphism, developmental delay/intellectual disability, episodic hyperventilation and/or breath-holding while awake
NewbornDx™Coverage: 99%
NRAS
Noonan syndrome
dysmorphic facial features, short stature, congenital heart defect, broad or webbed neck, widely spaced nipples, cryptorchidism (males), coagulation defect, abnormal pectus
NewbornDx™Coverage: 100%
NR5A1
46XY sex reversal
primary adrenal failure during infancy, complete gonadal dysgenesis, external genital abnormalities (some cases)
NewbornDx™Coverage: 100%
NR3C2
Pseudohypoaldosteronism
neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels
NewbornDx™Coverage: 100%
NR3C1
Glucocorticoid resistance
increased plasma cortisol concentration, high urinary free cortisol
NewbornDx™Coverage: 100%
NR2F2
Congenital cardiac defects
nonsyndromic congential heart defects
NewbornDx™Coverage: 96%
NR2F1
Bosch-Boonstra-Schaaf optic atrophy syndrome
decreased vision, pale optic nerves, developmental delay, intellectual disability
NewbornDx™Coverage: 90%
NR1H4
Neonatal cholestasis
intralobular cholestasis, jaundice, failure to thrive, liver failure
NewbornDx™Coverage: 96%
NR0B1
Adrenal hypoplasia congenita
vomiting, difficulty with feeding, dehydration, hypoglycemia, shock due salt wasting, hyperpigmentation of the skin, cryptorchidism
NewbornDx™Coverage: 100%
NPR2
Epiphyseal chondrodysplasiaShort stature with nonspecific skeletal abnormalities
severe dwarfism, dolichocephalic, short truck, decreased vertebral height, narrowing of the lumbar interpedicular distances
NewbornDx™Coverage: 100%
NPHS1
Nephrotic syndrome
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%
NPHP4
Joubert syndromeSenior-Loken syndromeNephronophthisis
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
NPHP3
Meckel syndromeNephronophthisisRenal-hepatic-pancreatic dysplasia
cystic kidney disease, renal failure, anemia, polyuria, polydipsia, isosthenuria
NewbornDx™Coverage: 97%
NPHP1
Joubert syndromeNephronophthisisSenior-Loken syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 97%
NPC2
Niemann-Pick disease
severe pulmonary involvement, hypotonia, developmental delay, hepatomegaly, seizures, spasticity, dystonia, cerebellar ataxia, 'sea-blue' histiocytes
NewbornDx™Coverage: 99%
NPC1
Niemann-Pick disease
ataxia, grand mal seizures, spasticity, dystonia, vertical supranuclear gaze palsy, developmental delay, sea-blue histiocytes in the marrow
NewbornDx™Coverage: 100%
NOTCH2
Alagille syndromeHajdu-Cheney syndrome
bile duct paucity, cardiac defect, butterfly vertebrae, posterior embryotoxon, facial dysmorphism
NewbornDx™Coverage: 100%
NOTCH1
Adams-Oliver syndromeAortic valve disease
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 99%
NOS3
Essential hypertension
risk factor for essential hypertension
NewbornDx™Coverage: 96%
NOG
Multiple synostoses syndrome
multiple joint fusions, conductive hearing loss, characteristic facial features
NewbornDx™Coverage: 100%
NODAL
Heterotaxy syndrome
randomization of placement of visceral organs, including the heart, lungs, liver, spleen, and stomach
NewbornDx™Coverage: 100%
NNT
Glucocorticoid deficiency
failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, shock
NewbornDx™Coverage: 100%
NMNAT1
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 93%
NME8
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 80%
NLRP3
Muckle-Wells syndrome
recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis related to exposure to cold temperatures
NewbornDx™Coverage: 100%
NKX3-2
Spondylo-megaepiphyseal-metaphyseal dysplasia
disproportionate short stature, short and stiff neck and trunk, delayed and impaired ossification of the vertebral bodies, enlargement of ossification centers of the tubular bones
NewbornDx™Coverage: 94%
NKX2-6
Conotruncal heart malformationsPersistent truncus arteriosus
congenital heart defect, persistent truncus arteriosus
NewbornDx™Coverage: 100%
NKX2-5
Congenital cardiac defectsCongenital hypothyroidism
hypoplastic left heart syndrome, VSD, Tetralogy of Fallot, conotruncal heart malformations
NewbornDx™Coverage: 100%
NKX2-2
Maturity-onset diabetes of the young
diabetes caused by primary insulin secretion defects
NewbornDx™Coverage: 100%
NKX2-1
Benign hereditary choreaChoreoasthetosis, hypothyroidism, and neonatal respiratory distress
neonatal respiratory distress, recurrent respiratory infections, global developmental delay, hypotonia, choreoathetosis, ataxia, dystonia, dysarthia, general hypothyroidism, increased TSH
NewbornDx™Coverage: 100%
NIPBL
Cornelia de Lange syndrome
facial dysmorphism, pre- and postnatal growth retardation, mental retardation, upper limb anomalies
NewbornDx™Coverage: 93%
NIPAL4
Congenital ichthyosis
lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), collodion membrane at birth and have palmoplantar keratoderma, digital contractures
NewbornDx™Coverage: 100%
NIN
Seckel syndrome
severe pre- and postnatal growth retardation, microcephaly, developmental delay, short stature, congenital bilateral hip dysplasia, seizures, lack of genital anormalies
NewbornDx™Coverage: 97%
NID1
Dandy-Walker malformation with occipital cephalocele
Dandy-Walker malformation with occipital cephalocele
NewbornDx™Coverage: 100%
NHS
CataractsNance-Horan syndrome
congenital nuclear cataracts, dental anomalies, craniofacial dysmorphisms
NewbornDx™Coverage: 97%
NHLRC1
Progressive myoclonic epilepsy
progressive myoclonic epilepsy, myoclonic jerks, progressive cognitive decline, vision loss, dysarthria, dementia
NewbornDx™Coverage: 100%
NHEJ1
Congenital disorder of glycosylation
microcephaly, growth retardation, recurrent infactions, dysmorphic facial features, hypogammaglobulinemia
NewbornDx™Coverage: 94%
NGLY1
Congenital disorder of glycosylation
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%
NGF
Hereditary sensory and autonomic neuropathy
congenital insensitivity to pain, kin blotching, decreased sweating, episodic increased body temperature
NewbornDx™Coverage: 100%
NFU1
Multiple mitochondrial dysfunctions syndrome
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%
NFKBIA
Ectodermal dysplasia
recurrent infections, chronic diarrhea, failure to thrive, hepatosplenogmegaly
NewbornDx™Coverage: 100%
NFKB1
Common variable immunodeficiency
recurrent infections, hypogammaglobulinemia
NewbornDx™Coverage: 99%
NFIX
Marshall-Smith syndromeSotos syndrome
accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation
NewbornDx™Coverage: 97%
NF1
Neurofibromatosis, type 1
multiple caf-au-lait spots
NewbornDx™Coverage: 0%
NEUROG3
Congenital diarrhea
vomiting, dehydration, severe hyperchloremic metabolic acidosis, dehydration, failure to thrive
NewbornDx™Coverage: 100%
NEUROD1
Maturity-onset diabetes of the young
diabetes caused by primary insulin secretion defects
NewbornDx™Coverage: 100%
NEU1
Sialidosis
coarse facies, short stature, progressive vision loss, hepatomegaly, splenomegaly, skeletal involvement (dysostosis multiplex, epiphyseal stippling), seizuers, ataxia, hypotonia
NewbornDx™Coverage: 100%
NEK1
Short-rib thoracic dysplasia
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%
NECAP1
Epileptic encephalopathy
decreased fetal movement, poor feeding, hypotonia, intractable seizures, severe axial hypotonia with appendicular hypertonia, profound global developmental delay
NewbornDx™Coverage: 100%
NEB
Nemaline myopathy
muslce weakness, hypotonia, depressed or absent deep tendon reflexes
NewbornDx™Coverage: 100%
NDUFV2
Mitochondrial complex I deficiency
hypertrophic cardiomyopathy, truncal hypotonia, encephalopathy
NewbornDx™Coverage: 90%
NDUFV1
Mitochondrial complex I deficiency
encephalopathy, complex I deficiency
NewbornDx™Coverage: 100%
NDUFS8
Mitochondrial complex I deficiency
Leigh syndrome, hypotonia, lactic acidosis, hypertrophic cardiomyopathy, seizures
NewbornDx™Coverage: 100%
NDUFS7
Leigh syndrome
feeding problems, dysarthria, ataxia, vomiting, Leigh syndrome
NewbornDx™Coverage: 98%
NDUFS6
Mitochondrial complex I deficiency
fatal infantile lactic acidosis
NewbornDx™Coverage: 86%
NDUFS4
Mitochondrial complex I deficiency
lactic acidosis, failure to thrive, hypotonia, lethargy, basal ganglia hyperintensities, hypertrophic cardiomyopathy
NewbornDx™Coverage: 99%
NDUFS3
Mitochondrial complex I deficiency
encephalopathy, myopathy, developmental delay, lactic acidosis, severe axial dystonia, dysphagia
NewbornDx™Coverage: 100%
NDUFS2
Mitochondrial complex I deficiency
lactic acidosis, hypertrophic cardiomyopathy, Leigh syndrome
NewbornDx™Coverage: 100%
NDUFS1
Mitochondrial complex I deficiency
growth retardation, axial hypotonia, hepatomegaly, persistent hyperlactatemia, regression of early developmental milestones, dystonic posturing, difficulty swallowing, elevated lactate
NewbornDx™Coverage: 99%
NDUFB9
Mitochondrial complex I deficiency
progressive hypotonia during infancy, elevated serum lactate, complex I deficiency
NewbornDx™Coverage: 100%
NDUFB3
Mitochondrial complex I deficiency
IUGR, hypotonia with poor feeding and significant lactic acidosis, myopathy, developmental delay, decreased complex I deficiency
NewbornDx™Coverage: 100%
NDUFAF7
Mitochondrial complex I deficiency
complex I deficiency
NewbornDx™Coverage: 100%
NDUFAF6
Leigh syndrome
focal seizures, decreased movement and strength, ataxia, lactic acidosis, Leigh syndrome
NewbornDx™Coverage: 95%
NDUFAF5
Mitochondrial complex I deficiency
lactic acidosis, dysmorphic features, developmental delay, progressive spasticity
NewbornDx™Coverage: 97%
NDUFAF4
Mitochondrial complex I deficiency
infantile mitochondrial encephalopathy
NewbornDx™Coverage: 94%
NDUFAF3
Mitochondrial complex I deficiency
myoclonic seizures, diffuse brain leukomalacia, macrocephaly, a weak cry, wide anterior fontanel, axial hypotonia
NewbornDx™Coverage: 100%
NDUFAF2
Mitochondrial complex I deficiency
severe childhood-onset progressive encephalopathy, white matter abnormalities
NewbornDx™Coverage: 0%
NDUFAF1
Mitochondrial complex I deficiency
hypertrophic cardiomyopathy, developmental delay, lactic acidosis, hypotonia
NewbornDx™Coverage: 97%
NDUFA9
Leigh syndrome
respiratory distress, metabolic acidosis, leigh syndrome, hearing loss, retinitis pigmentosa, choreodystonic movements
NewbornDx™Coverage: 99%
NDUFA4
Leigh syndrome
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%
NDUFA2
Leigh syndrome
lactic acidosis, hypertrophic cardiomyopathy, developmental delay, brain anomalies, encephalomyelopathy
NewbornDx™Coverage: 100%
NDUFA13
Mitochondrial complex I deficiency
hypotonia, dyskinesia, sensorial deficiencies
NewbornDx™Coverage: 100%
NDUFA12
Leigh syndrome
delayed motor development, progressive loss of motor abilities, development of scoliosis and dystonia, muscle atrophy, hypotonia, normal vision and hearing
NewbornDx™Coverage: 100%
NDUFA11
Mitochondrial complex I deficiency
infantile metabolic acidosis, hypertrophic cardiomyopathy, encephalocardiomyopathy, no motor development
NewbornDx™Coverage: 98%
NDUFA10
Leigh syndrome
white matter abnormalities, hypotonia, increased serum and CSF lactate, periods of abnormal breathing, hypertrophic cardiomyopathy, global developmental delay
NewbornDx™Coverage: 97%
NDUFA1
Mitochondrial complex I deficiency
progressive neurodegenerative during intercurrent illnesses
NewbornDx™Coverage: 93%
NDP
Norrie disease
retinal fibrous and vascular changes, decreased vision
NewbornDx™Coverage: 98%
NDE1
Lissencephaly
severe brain atrophy, microcephaly, profound mental retardation, seizures
NewbornDx™Coverage: 100%
NBN
Nijmegen breakage syndrome
progressive microcephaly, short stature, recurrent sinopulmonary infections, increased risk for cancer
NewbornDx™Coverage: 96%
NBEAL2
Gray platelet syndrome
mild-to-moderate bleeding tendency, moderate thrombocytopenia
NewbornDx™Coverage: 99%
NARS2
Combined oxidative phosphorylation deficiency
myopathy, facial weakness, generalized seziures, inconsolable crying, opisthotonus, white matter abnormalities, renal tubulopathy
NewbornDx™Coverage: 97%
NALCN
Congenital contractures, hypotonia, and developmental delayInfantile hypotonia, psychomotor retardation, characteristic facies
severe contractures of limbs, dysmorphism, hypotonia, developmental delay
NewbornDx™Coverage: 98%
NAGS
N-acetylglutamate synthase deficiency
hyperammonemia, lethargy, unwillingness to eat, recurrent vomiting, seizures, coma, respiratory distress
NewbornDx™Coverage: 92%
NAGLU
Charcot-Marie-Tooth diseaseMucopolysaccharidosis, type III
failure to thrive, developmental delay, hepatomegaly, diarrhea, coarse hair, protuberant abdomen, normal facies
NewbornDx™Coverage: 100%
NAGA
Schindler disease
lysosomal storage disorder (including infantile onset)
NewbornDx™Coverage: 99%
NADK2
2,4-dienoyl-CoA reductase deficiency
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%
NAA10
Lenz microphthalmia syndromeOdgen syndrome
unilateral or bilateral microphthalmia or anophthalmia, defects in skeletal and genitourinary systems
NewbornDx™Coverage: 97%
M
MYO5A
Griscelli syndrome
delayed development, intellectual disability, seizures, hypotonia, eye and vision abnormalities
NewbornDx™Coverage: 97%
MYO18B
Klippel-Feil syndrome
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%
MYH9
Non-syndromic hearing lossEpstein syndromeFechtner syndromeMacrothrombocytopenia and progressive sensorineural deafnessMay-Hegglin anomalySebastian syndrome
bilateral SNHL of high frequency, mild bleeding episodes, renal involvement
NewbornDx™Coverage: 100%
MYH8
Carney complexTrismus-pseudocamptodactyly syndrome
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%
MYH7B
Left ventricular non-compaction cardiomyopathy
left ventricular non-compaction cardiomyopathy
NewbornDx™Coverage: 95%
MYH7
Dilated cardiomyopathyHypertrophic cardiomyopathyMyosin storage myopathyLiang distal myopathy
muscle weakness, dilated cardiomyopathy
NewbornDx™Coverage: 100%
MYH6
Atrial septal defectDilated cardiomyopathyHypertrophic cardiomyopathy
hypertrophic cardiomyopathy, atrial septal defect (ASD)
NewbornDx™Coverage: 100%
MYH3
Distal arthrogryposis
contractures of the hands and feet, very small oral orifice
NewbornDx™Coverage: 100%
MYH2
Proximal myopathy and ophthalmoplegia
muscle weakness of upper and lower limbs, weak facial muscles, external ophthalmoplegia, contractures
NewbornDx™Coverage: 100%
MYH11
Thoracic aortic aneurysms and aortic dissections
aortic dissection and/or patent ductus arteriosus
NewbornDx™Coverage: 100%
MYCN
Feingold syndrome
microcephaly, digital anomalies, esophageal and duodenal atresias, learning disability/intellectual disability, micrognathia, short palpebral fissures, patent ductus arteriosus
NewbornDx™Coverage: 97%
MYBPC1
Lethal congenital contracture syndromeDistal arthrogryposis
respiratory insufficiency, severe multiple joint contractures, muscle wasting and atrophy primarily in legs
NewbornDx™Coverage: 100%
MVK
Mevalonic aciduria
failure to thrive, microcephaly, hepatosplenomegaly, central cataracts, dysmorphic features, anemia, vomiting, diarrhea, brain anomalies, periodic febrile crises, rash
NewbornDx™Coverage: 100%
MUT
Methylmalonic aciduria
lethargy, vomiting, dehydration, hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, hyperglycinemia
NewbornDx™Coverage: 100%
MUSK
Congenital myasthenic syndrome
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 100%
MTRR
Homocystinuria-megaloblastic anemia
failure to thrive, hypotonia, developmental delay, seizures, abnormal gait, megaloblastic anemia
NewbornDx™Coverage: 100%
MTR
Homocystinuria-megaloblastic anemia
failure to thrive, hypotonia, seizures, megaloblastic anemia, delayed psychomotor development
NewbornDx™Coverage: 99%
MTPAP
Spastic ataxia
cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy
NewbornDx™Coverage: 95%
MTOR
Smith-Kingsmore syndrome
macrocephaly, seizures, umbilical hernia, facial dysmorphic features
NewbornDx™Coverage: 99%
MTO1
Combined oxidative phosphorylation deficiency
hypertrophic cardiomyopathy, lactic acidosis
NewbornDx™Coverage: 91%
MTM1
Myotubular myopathy
hypotonia, muscle weakness, respiratory distress, diaphragm abnormality, abnormal liver function, joint contractures, long slender digits
NewbornDx™Coverage: 89%
MTHFR
Homocystinuria
microcephaly, muscle weakness, developmental delay, seizures, stroke, gait abnormalities, incoordination
NewbornDx™Coverage: 100%
MTFMT
Combined oxidative phosphorylation deficiency
delayed psychomotor development, ataxia, hypotonia, decreased visual acuity, Wolff-Parkinson-White syndrome
NewbornDx™Coverage: 94%
MSMO1
Microcephaly, congenital cataract, and psoriasiform dermatitis
short stature, low weight, congenital cataracts, delayed bone age, joint contractures, ichthyosiform erythroderma sparing the palms
NewbornDx™Coverage: 99%
MS4A1
Common variable immunodeficiency
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%
MRPS22
Combined oxidative phosphorylation deficiency
microcephaly, dilated cardiomyopathy, dysmorphic features, hypotonia, chronic metabolic acidosis, seizures, poor growth, lack of development, structural brain malformations
NewbornDx™Coverage: 96%
MRPS16
Combined oxidative phosphorylation deficiency
small for gestational age, dysmorphic facial features, limb edema, brachydactyly, redundant skin over the neck
NewbornDx™Coverage: 100%
MRPL44
Combined oxidative phosphorylation deficiency
hypertrophic cardiomyopathy, liver steatosis, pigmentary retinopathy, muscle and liver biopsy significant for mild microvesicular fatty degeneration
NewbornDx™Coverage: 100%
MRPL3
Combined oxidative phosphorylation deficiency
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%
MRE11A
Ataxia-telangiectasia-like disorder
progressive ataxia, ocular apraxia, cerebellar vermis hypoplasia, dysarthria, myoclonus,
NewbornDx™Coverage: 93%
MRAP
Glucocorticoid deficiency
hyperpigmentation, recurrent hypoglycemic episodes, low to undetectable plasma cortisol, elevated plasma ACTH
NewbornDx™Coverage: 100%
MPZ
Charcot-Marie-Tooth disease
demyelinating neuropathy, elevated CSF protein, muscle weakness
NewbornDx™Coverage: 94%
MPV17
Mitochondrial DNA depletion syndrome
progressive liver failure
NewbornDx™Coverage: 100%
MPL
Thrombocythemia
severe pancytopenia, absence of megakaryocytes, very low platelet counts
NewbornDx™Coverage: 100%
MPI
Congenital disorder of glycosylation
hyperinsulinemic hypoglycemia, cyclic vomiting, chronic diarrhea, liver disease, coagulopathy, failure to thrive, hypotonia
NewbornDx™Coverage: 100%
MPDZ
Non-syndromic hydrocephalus
macrocephaly due to communicating hydrocephalus, thinning of the cerebral cortex, simplified gyration pattern, intellectual disability
NewbornDx™Coverage: 99%
MPDU1
Congenital disorder of glycosylation
severe developmental delay, generalized scaly, erythematous skin, attacks of hypertonia
NewbornDx™Coverage: 100%
MPC1
Mitochondrial pyruvate carrier deficiency
poor growth, lactic acidosis, hypoglycemia, hypotonia, hepatomegaly, delayed psychomotor development
NewbornDx™Coverage: 100%
MOGS
Congenital disorder of glycosylation
hypotonia, dysmorphic facial features, hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, generalized edema
NewbornDx™Coverage: 100%
MOCS2
Molybdenum cofactor deficiency
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%
MOCS1
Molybdenum cofactor deficiency
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%
MMP9
Metaphyseal anadysplasia
short stature, bone abnormalities
NewbornDx™Coverage: 94%
MMP2
Multicentric osteolysis, nodulosis, and arthropathy
subcutaneous nodules in joints, knees, feet, elbows, pretibial, hyperpigmented erythematous lesions, osteoporosis, flexion contracture, finger contractures
NewbornDx™Coverage: 100%
MMP14
Winchester syndrome
short stature, severe joint contractures, peripheral corneal opacities, coarsened facies, dissolution of carpal and tarsal bones, generalized osteoporosis
NewbornDx™Coverage: 100%
MMP13
Spondyloepimetaphyseal dysplasia
pear-shaped vertebrae, rhizomelic shortening, genu varum deformities, bowing of femurs and tibias
NewbornDx™Coverage: 100%
MMADHC
Methylmalonic aciduria and homocystinuria
acute metabolic decompensation, progressive encephalopathy, seizures, hypotonia, ataxia, failure to thrive, megaloblastic anemia, nystagmus
NewbornDx™Coverage: 99%
MMACHC
Methylmalonic aciduria and homocystinuria
microcephaly, failure to thrive, hypotonia, cytopenias, global developmental delay
NewbornDx™Coverage: 100%
MMAB
Methylmalonic aciduria
lethargy, vomiting, dehydration, hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, hyperglycinemia
NewbornDx™Coverage: 96%
MMAA
Methylmalonic aciduria
metabolic acidosis, poor feeding, failure to thrive, vomiting, lethargy, seizures, developmental delay, tremors, blood disorders, hepatomegaly
NewbornDx™Coverage: 100%
MLYCD
Malonyl-CoA decarboxylase deficiency
developmental delay, seizures, hypoglycemia, metabolic acidosis, increased malonic acid, hypertrophic cardiomyopathy, short stature, hypotonia
NewbornDx™Coverage: 93%
MLC1
Megalencephalic leukoencephalopathy
macrocephaly, ataxia, seizures, large subcortical cysts in frontal and temporal lobes of brain, diffuse swelling of white matter
NewbornDx™Coverage: 100%
MKS1
Bardet-Biedl syndrome
cystic renal disease, central nervous system malformation, polydactyly, retinal degeneration
NewbornDx™Coverage: 100%
MKKS
Bardet-Biedl syndromeMcKusick-Kaufman syndrome
postaxial polydactyly, congenital heart disease, hydrometrocolpos (females), genital malformations, rod-cone dystrophy, truncal obesity, renal abnormalities
NewbornDx™Coverage: 100%
MITF
Waardenburg syndromeTietz albinism-deafness syndrome
pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, lateral displacement of the ocular inner canthi
NewbornDx™Coverage: 100%
MID1
Opitz GBBB syndrome
ocular hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares, laryngotracheoesophageal defects, genitourinary abnormalities
NewbornDx™Coverage: 98%
MIB1
Left ventricular non-compaction cardiomyopathy
left ventricular noncompaction cardiomyopathy
NewbornDx™Coverage: 99%
MGP
Keutel syndrome
multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, abnormal cartilage ossification or calcification
NewbornDx™Coverage: 89%
MGME1
Mitochondrial DNA depletion syndrome
progressive external ophthalmoplegia, muscle weakness and atrophy, respiratory insufficiency
NewbornDx™Coverage: 100%
MGAT2
Congenital disorder of glycosylation
facial dysmorphism, stereotypic hand movements, seizures, varying degrees of developmental delay
NewbornDx™Coverage: 100%
MGAT1
Fatty liver disease
may play a role in fatty liver disease
NewbornDx™Coverage: 100%
MFSD8
Neuronal ceroid lipofuscinosisMacular dystrophy with central cone involvement
developmental standstill or regression, seizures, retinal degeneration
NewbornDx™Coverage: 99%
MFF
Mitochondrial disease
global developmental delay, hypotonia, pale optic nerves, normal lactate
NewbornDx™Coverage: 100%
MESP2
Spondylocostal dysostosis
truncal shortening, short neck, risk of infections due to pulmonary restriction
NewbornDx™Coverage: 99%
MEOX1
Klippel-Feil syndrome
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
MEIS2
Multiple congenital anomalies
cleft palate, cardiac defects, mild intellectual disability
NewbornDx™Coverage: 100%
MEGF8
Carpenter syndrome
multisuture craniosynostosis, polysyndactyly of the hands and feet, obesity, umbilical hernia, cryptorchidism, congenital heart disease
NewbornDx™Coverage: 100%
MEGF10
Myopathy, areflexia, respiratory distress, and dysphagia
proximal and generalized muscle weakness, respiratory distress, facial weakness, areflexia, hypotonia
NewbornDx™Coverage: 100%
MEFV
Familial Mediterranean fever
recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis
NewbornDx™Coverage: 100%
MEF2C
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
severe intellectual disability, hypotonia, seizures, inability to walk, stereotypic repetitive movements, dysmorphic facial features
NewbornDx™Coverage: 100%
MEF2A
Coronary artery disease
reduced or absent blood flow in one or more of the arteries that encircle and supply the heart
NewbornDx™Coverage: 95%
MED17
Progressive microcephaly with seizures and brain atrophy
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%
MED13L
Transposition of the great arteries, dextro-looped
complete inversion of the great vessels
NewbornDx™Coverage: 100%
MED12
Opitz-Kaveggia syndrome
dysmorphic facial features, relative macrocephaly, broad thumbs, hypotonia, constipation, partial agenesis of corpus callosum
NewbornDx™Coverage: 98%
MECP2
Epileptic encephalopathyRett syndrome
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%
MCTP2
Congenital left heart obstructive defects
congenital heart defects
NewbornDx™Coverage: 98%
MCPH1
Primary microcephaly
microcephaly, absence of visceral malformations, cognitive impairment
NewbornDx™Coverage: 98%
MCOLN1
Mucolipidosis type IV
severe psychomotor delay, progressive visual impairment, retinal degeneration, cloudy cornea
NewbornDx™Coverage: 98%
MCM4
Natural killer cell and glucocorticoid deficiency with DNA repair defect
poor growth, microcephaly, recurrent respiratory infections, hapatomegaly, splenomegaly, lung fibrosis, hyperpigmentation, adrenal insufficiency, corticosteroid deficiency, lymphadenopathy
NewbornDx™Coverage: 100%
MCFD2
Combined factor V and VIII deficiency
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%
MCEE
Methylmalonyl-CoA epimerase deficiency
failure to thrive, gastroesophageal reflux, metabolic acidosis, dehydration, self-regulated protein restriction
NewbornDx™Coverage: 100%
MCCC2
3-methylcrotonyl-CoA carboxylase deficiency
feeding difficulties, recurrent episodes of vomiting and diarrhea, lethargy, hypotonia, developmental delay, seizures
NewbornDx™Coverage: 98%
MCCC1
3-methylcrotonyl-CoA carboxylase deficiency
feeding difficulties, recurrent episodes of vomiting and diarrhea, lethargy, hypotonia, developmental delay, seizures
NewbornDx™Coverage: 98%
MC4R
Obesity
severe obesity
NewbornDx™Coverage: 100%
MC2R
Glucocorticoid deficiency
low or undetectable cortisol, grossly elevated ACTH levels, hypoglycemia, failure to thrive
NewbornDx™Coverage: 100%
MBD5
Syndromic mental retardation
severe intellectual disability, autistic features, delayed development, epileptic encephalopathy
NewbornDx™Coverage: 100%
MAT1A
Isolated persistent hypermethioninemia
asymptomatic, rarely causes intellectual disability, demyelination, dystonia, hyperreflexia, elevated serum methionine
NewbornDx™Coverage: 100%
MASTL
Thrombocytopenia
decreased numbers of normal platelets, mild bleeding tendency
NewbornDx™Coverage: 98%
MASP1
3MC syndrome
hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows, cleft lip and palate, postnatal growth deficiency, cognitive impairment
NewbornDx™Coverage: 100%
MARS2
Combined oxidative phosphorylation deficiencySpastic ataxia
sensorineural hearing loss, generalized hypotonia, significant pectus carinatum, white matter changes, gastrointestinal difficulties
NewbornDx™Coverage: 100%
MAP2K2
Craniofaciocutaneous syndrome
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%
MAP2K1
Cardiofaciocutaneous syndrome
cardiac defect (pulmonic stenosis, ASD, hypertrophic cardiomyopathy), facial dysmorphism, dry rough skin, keratosis pilaris, nevi, hypotonia, failure to thrive
NewbornDx™Coverage: 98%
MANBA
I2-mannosidosis
developmental delay, mental retardation, hypotonia, hearing loss, tortuosity of conjunctival vessels, recurrent infections
NewbornDx™Coverage: 99%
MAN2B1
Alpha-mannosidosis
macrocephaly, sensorineural hearing loss, coarse facies, dysostosis multiplex, hypotonia, hepatomegaly, splenomegaly, macroglossia, gingival hypertrophy
NewbornDx™Coverage: 100%
MAN1B1
Syndromic mental retardation
severe intellectual disability, dymorphic facial features
NewbornDx™Coverage: 100%
MAGEL2
Prader-Willi-like Syndrome
neonatal hypotonia with poor suck, feeding problems in infancy, hyperphagia with excessive weight gain before age 6, developmental delay, hypogonadism
NewbornDx™Coverage: 99%
MAFB
Multicentric carpotarsal osteolysis syndrome
progressive destruction of the carpal and tarsal bone, chronic renal failure
NewbornDx™Coverage: 100%
MAF
Ayme-Gripp syndrome
congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, postnatal short stature
NewbornDx™Coverage: 79%
L
LZTR1
Noonan syndrome
short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, coagulation defects
NewbornDx™Coverage: 100%
LZTFL1
Bardet-Biedl syndrome
rod-cone dystrophy, truncal obesity, hypoglycemia, postaxial polydactyly, cognitive impairment, genitourinary malformations, renal abnormalities
NewbornDx™Coverage: 92%
LYST
Chediak-Higashi syndrome
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%
LYRM4
Combined oxidative phosphorylation deficiency
respiratory distress, hypotonia, severe lactic acidosi, hepatomegaly, weakness, abnormal EEG
NewbornDx™Coverage: 73%
LTBP4
Cutis laxa
loose and/or wrinkled skin causing prematurely aged appearance
NewbornDx™Coverage: 98%
LRRC8A
Agammaglobulinemia
congenital agammaglobulinemia, risk of infections
NewbornDx™Coverage: 100%
LRRC6
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 91%
LRPPRC
Leigh syndrome
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%
LRP5
OsteopetrosisExudative vitreoretinopathy
incomplete development of the retinal vasculature, decreased visual acuity
NewbornDx™Coverage: 98%
LRP4
Congenital myasthenic syndrome
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 100%
LRP2
Donnai-Barrow syndrome
facial anomalies, developmental ocular anomalies, sensorineural hearing loss, proteinuria
NewbornDx™Coverage: 100%
LRIT3
Congenital stationary night blindness
impaired night vision, decreased visual acuity, nystagmus, myopia, strabismus
NewbornDx™Coverage: 100%
LRBA
Immunodeficiency
recurrent infections, idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia
NewbornDx™Coverage: 98%
LRAT
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 100%
LPL
Familial lipoprotein lipase deficiency
lipemia retinalis, hyperlipemia, hyperchylomicronemia, hepatosplenomegaly, splenomegaly, pancreatitis
NewbornDx™Coverage: 100%
LPIN2
Majeed syndrome
chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, neutrophilic dermatosis
NewbornDx™Coverage: 99%
LPIN1
Acute recurrent myoglobinuria
recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine
NewbornDx™Coverage: 99%
LMX1B
Nail-patella syndrome
dysplasia of the nails, absent or hypoplastic patellae
NewbornDx™Coverage: 98%
LMOD3
Nemaline myopathy
generalized muscle weakness, hypotonia with respiratory insufficiency, feeding difficulties
NewbornDx™Coverage: 91%
LMNA
Congenital muscular dystrophy
short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis
NewbornDx™Coverage: 98%
LMBRD1
Methylmalonic aciduria and homocystinuria
lethargy, hypotonia, feeding difficulties, failure to thrive, breathing difficulties, megaloblastic anemia, recurrent infactions, developmental delay, reticulate pigmented skin abnormalities
NewbornDx™Coverage: 69%
LMBR1
Skeletal disease
bilateral congenital amputations of the upper and lower extremities, aplasia of the hands and feet
NewbornDx™Coverage: 88%
LMAN1
Combined factor V and VIII deficiency
epistaxis, menorrhagia, excessive bleeding during or after trauma
NewbornDx™Coverage: 98%
LIPT1
Lipoyltransferase deficiency
cardiac involvement (bradycardia, pulmonary hypertension), liver dysfunction, hypotonia, developmental delay, dystonic movments, white matter abnormalities, lactate acidosis
NewbornDx™Coverage: 100%
LIPN
Congenital ichthyosis
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%
LIPA
Lysosomal acid lipase deficiencyWolman disease
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%
LIG4
Severe combined immunodeficiency
microcephaly, growth and/or developmental delay, pancytopenia, various skin abnormalities
NewbornDx™Coverage: 100%
LIFR
Stuve-Wiedemann syndrome/Schwartz-Jampel syndrome
bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory and feeding distress
NewbornDx™Coverage: 91%
LIAS
Pyruvate dehydrogenase lipoic acid synthetase deficiency
microcephaly, seizures, hypotonia, poor feeding, lactic acidosis, seizures, respiratory distress, hypertrophic cardiomyopathy, developmental and motor delay
NewbornDx™Coverage: 90%
LHX4
Combined pituitary hormone deficiency
short stature, delayed bone age, hypoglycemia, abnormal petrous bone, hypothyroidism (if untreated)
NewbornDx™Coverage: 95%
LHX3
Combined pituitary hormone deficiency
anterior pituitary enlargement or hypoplasia, low or absent GH, TSH, FSH, LH, PL, ACTH
NewbornDx™Coverage: 100%
LHX1
Diabetes mellitus and renal disease
renal cysts, diabetes
NewbornDx™Coverage: 100%
LHCGR
Hypergonadotropic hypogonadism
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%
LGI1
Familial epilepsy
temporal lobe epilepsy
NewbornDx™Coverage: 100%
LEMD3
Buschke-Ollendorff syndrome
multiple subcutaneous nevi or nodules
NewbornDx™Coverage: 98%
LEFTY2
Left-right axis malformations
normally related great arteries, left ventricle hypoplasia, complete atrioventricular canal defect with a common atrioventricular valve
NewbornDx™Coverage: 100%
LDHA
Glycogen storage disease
myoglobinuria, erythematous squamous skin lesions, muscle pain and cramps, elevated CK, elevated serum lactate and pyruvate
NewbornDx™Coverage: 100%
LCK
Immunodeficiency
diarrhea, oral candidiasis, failure to thrive
NewbornDx™Coverage: 100%
LCA5
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 94%
LBR
Greenberg skeletal dysplasia
fetal hydrops, shortening of all long bones, platyspondyly, disorganization of chondroosseous calcification, ectopic ossification centers
NewbornDx™Coverage: 98%
LARS2
Perrault syndrome
severe to profound congenital sensorineural hearing loss, premature ovarian failure (POF) secondary to ovarian dysgenesis, normal pubertal development for males
NewbornDx™Coverage: 100%
LARS
Infantile liver failure syndrome
infantile hepatopathy, acute liver failure, failure to thrive, developmental delay
NewbornDx™Coverage: 95%
LARGE1
Muscular dystrophy-dystroglycanopathy
hypotonia, poor spontaneous movements, muscle weakness, delay or arrest of gross motor development with joint and/or spinal rigidity
NewbornDx™Coverage: 100%
LAMTOR2
Immunodeficiency
short stature, hypopigmented skin, coarse facial features, recurrent bronchopulmonary infections due to Streptococcus pneumoniae, low peripheral neutrophil counts
NewbornDx™Coverage: 100%
LAMC2
Epidermolysis bullosa
blistering with little or no trauma
NewbornDx™Coverage: 99%
LAMB3
Epidermolysis bullosaAmelogenesis imperfecta
blistering with little or no trauma
NewbornDx™Coverage: 100%
LAMB2
Pierson syndrome
congenital nephrotic syndrome, microcoria and hypoplasia of the ciliary and pupillary muscles
NewbornDx™Coverage: 100%
LAMB1
Lissencephaly
hydrocephalus, seizures, severely delayed psychomotor development, cobblestone changes in the cortex, subcortical band heterotopia
NewbornDx™Coverage: 99%
LAMA3
Epidermolysis bullosaLaryngoonychocutaneous syndrome
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%
LAMA2
Congenital muscular dystrophy
profound hypotonia, poor spontaneous movements, weak cry, respiratory failure, failure to thrive, temporomandibular joint contractures, macroglossia, inability to walk
NewbornDx™Coverage: 99%
L2HGDH
L-2-hydroxyglutaric aciduria
delayed development, seizures, hypotonia, abnormalities of the cerebrum
NewbornDx™Coverage: 96%
L1CAM
Hydrocephalus
severe hydrocephalus, adducted thumbs,spasticity, severe, intellectual disability
NewbornDx™Coverage: 100%
K
KRT9
Palmoplantar keratoderma
hyperkeratosis on the surface of palms and soles, no follicular or oral lesions
NewbornDx™Coverage: 99%
KRT86
Monilethrix
development of fragile, brittle hair (normal hair at birth), hair fractures and produces varying degrees of dystrophic alopecia
NewbornDx™Coverage: 100%
KRT83
Monilethrix
development of fragile, brittle hair (normal hair at birth), hair fractures and produces varying degrees of dystrophic alopecia
NewbornDx™Coverage: 100%
KRT81
Monilethrix
development of fragile, brittle hair (normal hair at birth), hair fractures and produces varying degrees of dystrophic alopecia
NewbornDx™Coverage: 100%
KRT5
Epidermolysis bullosaDowling-Degos disease
reticular pigmentation (usually flexural distribution), numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen
NewbornDx™Coverage: 100%
KRT2
Congenital ichthyosis
generalized reddening of the skin, blistering at birth
NewbornDx™Coverage: 100%
KRT16
Pachyonychia congenitaPalmoplantar keratoderma
hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts
NewbornDx™Coverage: 100%
KRT14
Epidermolysis bullosa
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%
KRT10
Congenital ichthyosis
erythema and widespread formation of epidermal blisters developing at birth
NewbornDx™Coverage: 90%
KRT1
Congenital ichthyosis
erythema, widespread formation of epidermal blisters developing at birth
NewbornDx™Coverage: 93%
KRAS
Cardiofaciocutaneous syndromeNoonan syndrome
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%
KPTN
Syndromic mental retardation
macrocephaly with frontal bossing, craniosynostosis, scaphocephaly, broad nasal bridge, hooded eyelids with small, downslanting palpebral fissures, and a prominent chin, seizures, global developmental delay, mildly delayed walking, high levels of anxiety, stereotyped behavior, repetitive speech
NewbornDx™Coverage: 100%
KMT2D
Kabuki syndrome
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%
KMT2A
Wiedemann-Steiner syndrome
short stature, failure to thrive, poor growth, long eyelashes, mild-to-moderate intellectual disability, hypertrichosis
NewbornDx™Coverage: 98%
KLHL41
Nemaline myopathy
progressive muscle weakness
NewbornDx™Coverage: 100%
KLHL40
Nemaline myopathy
fetal akinesia or hypokinesia, contractures, fractures, respiratory failure, swallowing difficulties, chest deformity
NewbornDx™Coverage: 100%
KLF11
Maturity-onset diabetes of the young
early-onset type II diabetes mellitus
NewbornDx™Coverage: 100%
KLF1
Hereditary persistence of fetal hemoglobin
short stature, hepatmegaly, splenomegaly, ineffective erythropoiesis, anemia, increased fetal hemoglobin, hyperbilirubinemia
NewbornDx™Coverage: 99%
KISS1R
Hypogonadotropic hypogonadism
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%
KISS1
Hypogonadotropic hypogonadism
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%
KIF7
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 97%
KIF5C
Complex cortical dysplasia
IUGR, arthrogryposis, congenital microcephaly, clonic seizures, frontal and perisylvian polymicrogyria and a thin corpus callosum, severe intellectual disability
NewbornDx™Coverage: 99%
KIF5A
Spastic paraplegia
lower limb spasticity, hyperreflexia, extensor plantar responses, variable involvement of the upper limbs
NewbornDx™Coverage: 100%
KIF2A
Complex cortical dysplasia
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%
KIF22
Spondyloepimetaphyseal dysplasia with joint laxity
short stature, slender metacarpals and phalanges, progressive degeneration of carpal bones, laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor
NewbornDx™Coverage: 100%
KIF21A
Congenital fibrosis of extraocular muscles
bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position 20 to 30 degrees below the horizontal midline
NewbornDx™Coverage: 97%
KIF1A
Syndromic mental retardationSpastic paraplegia
unsteady spastic gait, hyperreflexia of the lower limbs
NewbornDx™Coverage: 100%
KIF11
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
microcephaly with or without chorioretinopathy, lymphedema, mild-to-moderate mental retardation
NewbornDx™Coverage: 92%
KIAA2022
Syndromic mental retardation
delayed psychomotor development, absent or poor speech development, postnatal growth retardation, microcephaly, strabismus
NewbornDx™Coverage: 100%
KIAA1279
Goldberg-Shprintzen megacolon syndrome
Hirschsprung disease, microcephaly, hypertelorism, submucous cleft palate, short stature, gyral abnormalities of the brain, facial dysmorphism
NewbornDx™Coverage: 0%
KIAA0196
Ritscher-Schinzel syndrome
macrocephaly, facial dysmorphism, cardiac defect (septal defects and aortic stenosis), brain malformations, severe developmental delay
NewbornDx™Coverage: 98%
KDM6A
Kabuki syndrome
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%
KDM5C
Syndromic mental retardation
microcephaly or macrocephaly, slowly progressive spastic paraplegia, facial hypotonia, maxillary hypoplasia, short stature, large ears
NewbornDx™Coverage: 99%
KCTD7
Progressive myoclonic epilepsy
intractable myoclonic seizures, developmental regression
NewbornDx™Coverage: 100%
KCTD1
Scalp-ear-nipple syndrome
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%
KCNT1
Epileptic encephalopathy
refractory focal seizures, arrest of psychomotor development
NewbornDx™Coverage: 97%
KCNQ3
Benign familial epilepsy
seizures (febrile, tonic-clonic, focal clonic), onset of seizures in days 2-8 of life, seizures remit by 2 months
NewbornDx™Coverage: 99%
KCNQ2
Epileptic encephalopathyBenign familial epilepsy
seizures (clonic and tonic), generalized stiffening, global developmental delay, intellectual disability, hypotonia, dystonia, spastic quadriparesis, automatisms
NewbornDx™Coverage: 99%
KCNQ1
Jervell and Lange-Nielsen syndromeLong QT syndrome
congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, high risk of sudden death
NewbornDx™Coverage: 90%
KCNMA1
Generalized epilepsy and paroxysmal dyskinesia
absence or generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia, involuntary dystonic or choreiform movements
NewbornDx™Coverage: 98%
KCNK3
Primary pulmonary arterial hypertension
pulmonary artery pressure in the absence of common causes of pulmonary hypertension
NewbornDx™Coverage: 100%
KCNJ8
Cantu syndrome
congenital hypertrichosis, macrosomia at birth, macrocephaly, coarsefacial appearance, cardiomegaly, skeletal abnormalities, developmental delay
NewbornDx™Coverage: 100%
KCNJ5
Long QT syndrome
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes)
NewbornDx™Coverage: 100%
KCNJ2
Andersen syndrome
dysmorphic features, cardiac arrhythmia, potassium-sensitive periodic paralysis
NewbornDx™Coverage: 100%
KCNJ13
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 100%
KCNJ11
Familial hyperinsulinismNeonatal diabetes mellitus
large for gestational age, diffuse islet cell hyperplasia, hypoglycemia, hyperinsulinemia
NewbornDx™Coverage: 100%
KCNJ10
SESAME syndrome
SNHL, seizures, psychomotor delay, intellectual disability, ataxia, hypotonia, electrolyte imbalance, enlarged vestibular aqueduct
NewbornDx™Coverage: 100%
KCNH5
Epileptic encephalopathy
normal development until 6 months, intractable generalized tonic-clonic seizures, developmental regression, hypotonia
NewbornDx™Coverage: 100%
KCNH2
Long QT syndrome
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes), syncope, seizures, or sudden death
NewbornDx™Coverage: 95%
KCNE2
Long QT syndrome
prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes)
NewbornDx™Coverage: 100%
KCNE1
Jervell and Lange-Nielsen syndromeRomano-Ward syndrome
abnormal cardiac ventricular repolarization with prolonged QT interval, bilateral congenital hearing loss
NewbornDx™Coverage: 100%
KCND2
Familial epilepsy
infantile-onset severe refractory epilepsy, autism, poor expressive speech
NewbornDx™Coverage: 99%
KCNB1
Epileptic encephalopathy
hypotonia, excessive somnolence, poorly controlled generalized tonic-clonic seizures, cognitive and motor developmental delay
NewbornDx™Coverage: 100%
KCNA2
Epileptic encephalopathy
normal early development until the onset of seizures between 5 and 17 months of age
NewbornDx™Coverage: 100%
KAT6B
Genitopatellar syndrome
genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability
NewbornDx™Coverage: 96%
KANSL1
Koolen-De Vries syndrome
severe intellectual disability, hypotonia, friendly demeanor, highly distinctive facial features
NewbornDx™Coverage: 100%
KANK1
Cerebral palsy
congential hypotonia, spastic quadriplegia with accompanying transient nystagmus, brain atrophy and ventriculomegaly
NewbornDx™Coverage: 100%
J
JUP
Naxos disease
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%
JAK3
Severe combined immunodeficiency
failure to thrive, recurrent upper respiratory tract infections, diarrhea, panhypogammaglobulinemia
NewbornDx™Coverage: 100%
JAGN1
Severe congenital neutropenia
recurrent bacterial infections of the upper and lower respiratory tract and skin, skin abscesses, neutropenia
NewbornDx™Coverage: 100%
JAG1
Alagille syndrome
liver disease, cholestasis, jaundice, hyperbilirubinemia, posterior embryotoxon, butterfly vertebrae, cardiac malformation
NewbornDx™Coverage: 99%
I
IYD
Thyroid dyshormonogenesis
growth retardation, goiter, hypothryoidism, low T4 and T3, continuous urinary iodine loss, iodine depletion
NewbornDx™Coverage: 100%
IVD
Isovaleric acidemia
lethargy, vomiting, seizures, sweaty feet smell, aversion to protein/poor feeding, dehydration
NewbornDx™Coverage: 100%
ITPR1
Spinocerebellar ataxia
delayed motor development and mild cognitive delay, nonprogressive gait and limb ataxia associated with cerebellar atrophy
NewbornDx™Coverage: 100%
ITGB4
Epidermolysis bullosa
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%
ITGB3
Platelet-type bleeding disorderGlanzmann thrombasthenia
failure of platelet aggregation, episodic mucocutaneous bleeding and unprovoked bruising, intracranial bleeding, petechiae, prolonged bleeding
NewbornDx™Coverage: 97%
ITGA7
Congenital muscular dystrophy
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%
ITGA6
Epidermolysis bullosa
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%
ITGA3
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa
microcephaly, renal failure, fragile skin, blistering of skin, dystrophic nails, sparse and fine hair, interstitial lung disease, respiratory distress
NewbornDx™Coverage: 100%
ITGA2B
Platelet-type bleeding disorderGlanzmann thrombasthenia
failure of platelet aggregation, episodic mucocutaneous bleeding and unprovoked bruising, intracranial bleeding, petechiae, prolonged bleeding
NewbornDx™Coverage: 100%
ISPD
Muscular dystrophy-dystroglycanopathy
macrocephaly, eye anomalies (retinal detachments, cataracts, optic nerve hypoplasia, glaucoma, microphthalmia, Persistent hyperplastic primary vitreous), hypotonia, muscle dystrophy, brian malformations
NewbornDx™Coverage: 94%
ISCU
Hereditary myopathy with lactic acidosis
progressive and severe muscle weakness and muscle wasting, exercise intolerance, lactic acidosis
NewbornDx™Coverage: 100%
IRX4
Ventricular septal defect
nonsyndromic ventricular septal defect (VSD)
NewbornDx™Coverage: 97%
IRF8
Immunodeficiency
failure to thrive, oral candidiasis, recurrent infections (susceptibility to mycobacterial infection after BCG immunization), lack of circulating monocytes and dendritic cells
NewbornDx™Coverage: 100%
IRF6
Popliteal pterygium syndromevan der Woude syndrome
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%
IRAK4
IRAK4 deficiencyRecurrent isolated invasive pneumococcal disease
recurrent infections, gram-positive Streptococcus pneumoniae and Staphylococcus aureus
NewbornDx™Coverage: 92%
IQCB1
Leber congenital amaurosisSenior-Loken syndrome
nystagmus, poor fixation, severe vision impairment, renal disease
NewbornDx™Coverage: 97%
INVS
Nephronophthisis
hypertension, respiratory failure, renal failure by age 3, chronic tubulointerstitial nephritis, hyperkalemic metabolic acidosis, neonatal death secondary to pulmonary insufficiency
NewbornDx™Coverage: 100%
INSR
Hyperinsulinemic hypoglycemia
hypoglycemic seizures, hyperinsulinemia hypoglycemia, fasting hyperinsulinemia
NewbornDx™Coverage: 98%
INS
Neonatal diabetes mellitusHyperproinsulinemia
hyperinsulinemia, hyperglycemia, normal response to exogenously administered insulin
NewbornDx™Coverage: 100%
INPPL1
Opsismodysplasia
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%
INPP5E
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 100%
IMPDH1
Leber congenital amaurosisRetinitis pigmentosa
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 96%
IMPAD1
Chondrodysplasia with joint dislocations
short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, micrognathia, cleft palate, facial dysmorphism
NewbornDx™Coverage: 100%
IL7R
Severe combined immunodeficiency
failure to thrive secondary to infection, recurrent infections, hepatomegaly, splenomegaly, diarrhea, normal or elevated numbers of functional natural, killer cells
NewbornDx™Coverage: 97%
IL2RG
Severe combined immunodeficiency
recurrent bacterial and viral infections, atrophy of the thymus, recurrent ear and respiratory infections
NewbornDx™Coverage: 99%
IL2RA
Interleukin 2 receptor alpha chain deficiency
recurrent viral, fungal, and bacterial infections, lymphadenopathy, autoimmune enteropathy and eczematous skin lesions, chronic diarrhea, hepatomegaly, splenomegaly
NewbornDx™Coverage: 100%
IL21R
Immunodeficiency
failure to thrive, recurrent infections, diarrhea, liver failure, fibrosis, cirrhosis, increased IgM and IgE
NewbornDx™Coverage: 100%
IL21
Common variable immunodeficiency
severe inflammatory bowel disease, severe diarrhea, severe failure to thrive, poor growth, malnutrition, recurrent and severe respiratory infections
NewbornDx™Coverage: 88%
IL20RA
Psoriasis
extra skin cells form thick, silvery scales and itchy, dry, red patches
NewbornDx™Coverage: 94%
IKBKG
Incontinentia Pigmenti
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%
IKBKB
Immunodeficiency
risk of recurrent infections
NewbornDx™Coverage: 98%
IKBKAP
Dysautonomia
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%
IHH
Acrocapitofemoral dysplasia
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%
IGSF1
Hypothyroidism, central, and testicular enlargement
central hypothyroidism, normal testicular volume in childhood, delayed growth spurt, overweight, decreased serum prolactin
NewbornDx™Coverage: 100%
IGLL1
Agammaglobulinemia
recurrent infections, hypogammaglobulinemia, absent B cells
NewbornDx™Coverage: 81%
IGHMBP2
Charcot-Marie-Tooth diseaseSpinal muscular atrophy with respiratory distress
progressive distal muscle weakness and atrophy affecting the lower and upper limbs, decreased reflexes
NewbornDx™Coverage: 99%
IGHM
Agammaglobulinemia
failure to thrive, recurrent ear and respiratory infections, diarrhea, absent or severely reduced numbers of B cells, agammaglobulinemia
NewbornDx™Coverage: 87%
IGFBP7
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
multiple retinal arterial macroaneurysm, pulmonic stenosis
NewbornDx™Coverage: 82%
IGF1R
Resistance to insulin-like growth factor I
short stature, low birth weight, poor growth, microcephaly, delayed bone age, clinodactyly, delayed motor development, wide-spaced nipples, pectus excavatum
NewbornDx™Coverage: 100%
IGF1
Growth retardation with deafness and mental retardation due to IGF1 deficiency
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%
IFT80
Short-rib thoracic dysplasia
constricted thoracic cage, short ribs, shortened tubular bones, 'trident' appearance of the acetabular roof, no reported internal organ anomalies
NewbornDx™Coverage: 91%
IFT43
Cranioectodermal dysplasia
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%
IFT27
Bardet-Biedl syndrome
morbid obesity, mild intellectual disability, polydactyly of all extremities, renal failure, retinitis pigmentosa, hypogonadism
NewbornDx™Coverage: 100%
IFT172
Ciliopathy
short stature, retinal degeneration, small thorax, respiratory distress (some patients), liver failure, progressive renal failure, short long bones, short ribs
NewbornDx™Coverage: 100%
IFT140
Short-rib thoracic dysplasia
short stature, retinal degeneration, renal failure, nephronophthisis, small femoral capital epiphyses, flattened femoral epiphyses, short fingers
NewbornDx™Coverage: 100%
IFT122
Cranioectodermal dysplasia
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%
IFITM5
Osteogenesis Imperfecta
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%
IFIH1
Aicardi-Goutieres syndromeSingleton-Merten syndrome
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%
IER3IP1
Microcephaly, epilepsy, and diabetes syndrome
microcephaly, neonatal hypotonia, severe intellectual disability, seizures, simplified gyral pattern, infantile diabetes mellitus
NewbornDx™Coverage: 99%
IDUA
Mucopolysaccharidosis type I
short stature, coarse facies, corneal clouding, mental retardation, hernias, dysostosis multiplex, hepatosplenomegaly
NewbornDx™Coverage: 92%
IDS
Mucopolysaccharidosis type II
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%
iCOS
Common variable immunodeficiency
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%
ICK
Endocrine-cerebroosteodysplasia
comprising endocrine, cerebral, and skeletal abnormalities
NewbornDx™Coverage: 97%
IBA57
Spastic paraplegiaMultiple mitochondrial dysfunctions syndrome
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%
H
HYLS1
Hydrolethalus syndrome
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%
HYDIN
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
HUWE1
Syndromic mental retardation
macrocephaly (variable), moderate to severe intellectual disability
NewbornDx™Coverage: 99%
HSPG2
Schwartz-Jampel syndrome
short stature, pectus carinatum, umbilical hernia, small testes, myotonic myopathy, joint contractures, blepharophimosis, external genital abnormalities
NewbornDx™Coverage: 99%
HSPD1
Hypomyelinating leukodystrophySpastic paraplegia
hypotonia, nystagmus, profound psychomotor developmental delay, apneic episodes, hypotonia, hyperreflexia, abnormal myelination, joint contractures
NewbornDx™Coverage: 95%
HSD3B7
Congenital bile acid synthesis defect
progressive liver disease, intrahepatic cholestasis, jaundice, hepatomegaly, diarrhea, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol
NewbornDx™Coverage: 100%
HSD3B2
3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
salt wasting, vomiting, lethary, poor feeding, ambiguous genitalia, low hormone production, male pseudohermaphroditism, hirsutism
NewbornDx™Coverage: 100%
HSD17B4
Perrault syndromeD-bifunctional protein deficiency
congenital severe to profound sensorineural hearing loss, premature ovarian failure (POF) secondary to ovarian dysgenesis, normal pubertal development for males
NewbornDx™Coverage: 99%
HSD17B10
17-beta-hydroxysteroid dehydrogenase X deficiency
developmental regression, hypotonia, epilepsy, progressive vision loss (retinopathy), cardiomyopathy, hearing loss, hypoglycemia
NewbornDx™Coverage: 100%
HRAS
Costello syndrome
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%
HPSE2
Urofacial syndrome
grossly distorted renal tracts, comprising dysmorphic bladders, dilatation of the ureter and renal pelvis
NewbornDx™Coverage: 100%
HPRT1
Lesch-Nyhan Syndrome
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%
HPGD
Cranioosteoarthropathy
digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, congenital heart disease
NewbornDx™Coverage: 100%
HPD
Tyrosinemia, type IIIHawkinsinuria
mild mental retardation, normal liver function, seizures, intermittent ataxia
NewbornDx™Coverage: 100%
HOXD13
BrachydactylySynpolydactyly
short and broad distal phalanges of thumbs and great toes, normal growth
NewbornDx™Coverage: 89%
HOXC13
Ectodermal dysplasia
hypotrichosis, nail dystrophy of all 20 digits by causing short fragile nails or spoon nails
NewbornDx™Coverage: 87%
HNF4A
Fanconi renotubular syndrome
short stature, increased birth weight, macrosomia, renal proximal tubule defect onset in childhood, nephrocalcinosis, rickets, neonatal hypoglycemia and hyperinsulinism
NewbornDx™Coverage: 100%
HNF1B
Renal cysts and diabetes syndrome
nondiabetic renal disease resulting from abnormal renal development, diabetes
NewbornDx™Coverage: 100%
HNF1A
Maturity-onset diabetes of the young
noninsulin-dependent diabetes mellitus
NewbornDx™Coverage: 100%
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
acute episodes of hypoketotic hypoglycemia. vomiting, poor feeding, lethargy, hepatomegaly, risk of coma
NewbornDx™Coverage: 100%
HMGCL
3-hydroxyisobutryl-CoA hydrolase deficiency
vomiting, diarrhea, lethargy, hypotonia, hypoglycemia, seizures
NewbornDx™Coverage: 100%
HMBS
Acute intermittent Porphyria
severe, acute abdominal pain without physical signs, nausea, vomiting, constipation, tachycardia, hypertension, urine may be reddish-brown or red
NewbornDx™Coverage: 98%
HLCS
Holocarboxylase synthetase deficiency
breathing difficulties (hyperventilation, tachypnea), feeding problems, alopecia, skin rash, hypotonia, irritability, seizures, lethargy, developmental delay, thrombocytopenia
NewbornDx™Coverage: 100%
HIBCH
3-hydroxyisobutryl-CoA hydrolase deficiency
seizures, developmental delay, hypotonia, Leigh sydnrome, progressive infantile regression
NewbornDx™Coverage: 93%
HGSNAT
Mucopolysaccharidosis, type IIIRetinitis pigmentosa
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%
HEXB
Sandhoff disease
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%
HEXA
Hexosaminidase A deficiencyTay-Sachs disease
exaggerated startle reaction to loud noises, hypotonia, seizures, cherry red spot, intellectual disability, vision loss and hearing loss, developmental regression
NewbornDx™Coverage: 100%
HESX1
Combined pituitary hormone deficiencySepto-optic dysplasia
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%
HES7
Spondylocostal dysostosis
short stature, dextrocardia, unilateral vertebral artery hypoplasia, rib anomalies, short thorax, vertebral anomalies
NewbornDx™Coverage: 79%
HEPACAM
Megalencephalic leukoencephalopathy
macrocephaly, ataxia and spasticity, seizures, white matter abnormalities
NewbornDx™Coverage: 93%
HDAC8
Cornelia de Lange syndrome
severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature, small hands, postnatal growth retardation, facial dysmorphism
NewbornDx™Coverage: 97%
HDAC4
Brachydactyly-mental retardation syndrome
brachydactyly, developmental delay, dysmorphic facial features
NewbornDx™Coverage: 100%
HCN4
Sick sinus syndrome
isolated sinus bradycardia, atrial fibrillation (some cases), no structural defects
NewbornDx™Coverage: 99%
HCN1
Epileptic encephalopathy
seizures, cognitive impairment
NewbornDx™Coverage: 96%
HCFC1
Methylmalonic acidemia and homocysteinemia, cblX type
short stature, failure to thrive, microcephaly, severely delayed psychomotor development, intractable seizures, hypotonia
NewbornDx™Coverage: 99%
HCCS
Linear skin defects with multiple congenital anomalies
unilateral or bilateral microphthalmia, skin that heal with age to form hyperpigmented areas
NewbornDx™Coverage: 94%
HBB
Beta-thalassemiaSickle cell disease, hemoglobin trait
swelling of the hands and feet, pallor, jaundice, pneumococcal sepsis or meningitis, severe anemia with splenic enlargement, acute chest syndrome
NewbornDx™Coverage: 100%
HAX1
Severe congenital neutropenia
neutropenia, recurrent bacterial infection, increased risk of myelodysplastic syndromes, risk of leukemia
NewbornDx™Coverage: 100%
HARS2
Perrault syndrome
congenital severe to profound sensorineural hearing loss, premature ovarian failure (POF) secondary to ovarian dysgenesis
NewbornDx™Coverage: 100%
HAND2
Congenital cardiac defects
pulmonary stenosis, ventricular septal defect (VSD), congenital heart disease
NewbornDx™Coverage: 96%
HAL
Histidinemia
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%
HADHB
Trifunctional protein deficiency
hypoglycemia, hypotonia, cardiomyopathy, respiratory failure
NewbornDx™Coverage: 98%
HADHA
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyTrifunctional protein deficiency
hypoglycemia, lethargy, hypotonia, retinopathy, peripheral neuropathy, cardiomyopathy, respiratory failure
NewbornDx™Coverage: 100%
HADH
Familial hyperinsulinism3-hydroxyacyl-coenzyme A dehydrogenase deficiency
poor growth, liver disease (hepatic necrosis, hepatic steatosis), poor feeding, hypotonia, seizures, hypoglycemia
NewbornDx™Coverage: 99%
HACD1
Congenital myopathy
congenital myopathy, severe hypotonia, areflexia, weak cry, facial weakness, mildly delayed motor development
NewbornDx™Coverage: 93%
G
GYS2
Glycogen storage disease
arrhythmia, muscle weakness and pain following moderate activity, syncope, long QT, hypoglycemia
NewbornDx™Coverage: 98%
GYS1
Glycogen storage disease
left ventricular hypertrophy, left atrial enlargement, muscle fatigability
NewbornDx™Coverage: 100%
GYG1
Glycogen storage disease
muscle weakness, cardiac arrhythmias
NewbornDx™Coverage: 100%
GUSB
Mucopolysaccharidosis type VII
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%
GUCY2D
Leber congenital amaurosis
nystagmus, poor fixation, severe vision impairment
NewbornDx™Coverage: 93%
GUCY2C
Meconium ileus, diarrhea
intestinal obstruction due to inspissated meconium in the distal ileum and cecum, diarrhea
NewbornDx™Coverage: 99%
GTPBP3
Combined oxidative phosphorylation deficiency
hypertrophic cardiomyopathy, hypotonia, lactic acidosis, white matter changes
NewbornDx™Coverage: 100%
GTF2H5
Trichothiodystrophy
brittle hair, ichthyosis, intellectual/developmental disabilities, congenital cataracts, short stature, sensitivity to sunlight
NewbornDx™Coverage: 99%
GSS
Glutathione synthetase deficiency
haemolytic anaemia, seizures, ataxia, spasticity
NewbornDx™Coverage: 100%
GRN
Frontotemporal lobar degeneration with ubiquitin-positive inclusionsPrimary progressive aphasia
rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, cerebellar atrophy
NewbornDx™Coverage: 100%
GRM6
Congenital stationary night blindness
impaired night vision, decreased visual acuity, nystagmus, myopia, strabismus
NewbornDx™Coverage: 97%
GRM1
Spinocerebellar ataxia
global developmental, poor or absent speech, ataxia, hyperreflexia, cerebellar atrophy, ventriculomegaly
NewbornDx™Coverage: 100%
GRIP1
Fraser syndrome
syndactyly, cryptophthalmos, renal anomalies, laryngeal stenosis, external genitalia anormalies
NewbornDx™Coverage: 100%
GRIN2B
Epileptic encephalopathy
seizures, intellectual disability, hypotonia, hypsarrhythmia seen on EEG, psychomotor delay
NewbornDx™Coverage: 100%
GRIN2A
Focal epilepsy, speech disorder, with or without mental retardation
severe seizures, delayed psychomotor development
NewbornDx™Coverage: 100%
GRIN1
Syndromic mental retardation
mild to severe intellectual disability, seizures
NewbornDx™Coverage: 100%
GRHPR
Primary hyperoxaluria
calcium oxalate urolithiasis, nephrocalcinosis, hematuria, elevated urinary oxylate and L-glycerate
NewbornDx™Coverage: 100%
GPSM2
Chudley-McCullough syndrome
sensorineural hearing loss, brain malformation including short and thin corpus callosum, heterotopia, frontal polymicrogyria, cerebellar dysplasia, arachnoid, normal development
NewbornDx™Coverage: 98%
GPR179
Congenital stationary night blindness
impairment of night vision can be slowly progressive
NewbornDx™Coverage: 100%
GPHN
Molybdenum cofactor deficiency
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%
GPD1
Hypertriglyceridemia
moderate to severe transient hypertriglyceridemia in infancy, hepatomegaly, persistent fatty liver, hepatic fibrosis
NewbornDx™Coverage: 100%
GPC6
Omodysplasia
severe congenital micromelia with shortening and distal tapering of the humeri, femora to give a club-like appearance, frontal bossing
NewbornDx™Coverage: 100%
GPC3
Simpson-Golabi-Behmel syndrome
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%
GP9
Bernard-Soulier syndrome
moderate bleeding tendency, easy bruising, or prolonged bleeding, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 100%
GP6
Platelet-type bleeding disorder
mild-to-moderate bleeding disorder, easy bruising, failure of platelet activation
NewbornDx™Coverage: 93%
GP1BB
Bernard-Soulier syndromeIsolated giant platelet disorder
moderate bleeding tendency, easy bruising, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 83%
GP1BA
Bernard-Soulier syndromePseudo-von Willebrand disease, platelet-type
moderate bleeding tendency, easy bruising, thrombocytopenia, increased mean platelet volume
NewbornDx™Coverage: 99%
GORAB
Geroderma osteodysplasticum
skin suggesting precocious aging, osteoporosis
NewbornDx™Coverage: 100%
GNS
Mucopolysaccharidosis type III
coarse facies, short stature, mild hepatomegaly and splenomegaly, joint contractures, seizures, global developmental delay
NewbornDx™Coverage: 99%
GNPTG
Mucolipidosis, type III
growth rate deceleration, joint stiffness, gradual mild coarsening of facial features, genu valgum, mild-to-moderate dysostosis multiplex
NewbornDx™Coverage: 90%
GNPTAB
Mucolipidosis, type II
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%
GNPAT
Rhizomelic chondrodysplasia punctata
disproportionately short stature, congenital contractures, spasticity, facial dysmorphism
NewbornDx™Coverage: 98%
GNMT
Glycine N-methyltransferase deficiency
hepatomegaly, hypermethioninemia, elevated transaminases
NewbornDx™Coverage: 100%
GNE
Inclusion body myopathy and Nonaka myopathySialuria
proximal and distal muscle weakness and wasting of the upper and lower limbs
NewbornDx™Coverage: 100%
GNAS
McCune-Albright syndromeProgressive osseous heteroplasiaPseudohypoparathyroidism
cafe-au-lait macules, fibrous dysplasia, endocrinopathies, Neonatal hypercortisolism, craniofacial abnormalities
NewbornDx™Coverage: 98%
GNAO1
Epileptic encephalopathy
EEG shows suppression-burst pattern, hypsarrhythmia, multifocal spike waves, lack of psychomotor development, lack of speech, cerebral atrophy, delayed myelination
NewbornDx™Coverage: 100%
GNAI3
Auriculocondylar syndrome
first and second pharyngeal arches, malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, mandibular condyle hypoplasia
NewbornDx™Coverage: 100%
GNA11
Familial hypocalciuric hypercalcemiaHypocalcemia
generally asymptomatic, hypocalcemia, muscle cramps
NewbornDx™Coverage: 100%
GMPPB
Muscular dystrophy-dystroglycanopathy
hypertonia, microcephaly, cleft palate, feeding difficulties, pontine and cerebellar hypoplasia, retinal dystrophy, mental retardation
NewbornDx™Coverage: 100%
GMPPA
Alacrima, achalasia, and mental retardation syndrome
alacrima, achalasia, dysphagia, feeding difficulties, global developmental delay, no adrenal insufficiency
NewbornDx™Coverage: 100%
GM2A
GM2-gangliosidosis
roving eye movements, cherry-red spots, hypotonia, seizures, hyperreflexia, abnormal movements, cerebral atrophy
NewbornDx™Coverage: 100%
GLYCTK
D-glyceria aciduria
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%
GLUL
Congenital glutamine deficiency
generalized hypotonia, lower limb hyperreflexia, seizures, severe developmental delay, apnea, recurrent respiratory infections, episodes of bradycardia, lack of development
NewbornDx™Coverage: 100%
GLUD1
Hyperinsulinism-hyperammonemia syndrome
hyperinsulinemic hypoglycemia, hyperammonemia, seizures, asymptomatic
NewbornDx™Coverage: 96%
GLRB
Hereditary hyperekplexia
hyperekplexia, normal to slight motor delay, normal intelligence, exaggerated startle response, stiffness at birth which can lessen with age
NewbornDx™Coverage: 89%
GLRA1
Hereditary hyperekplexia
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%
GLIS3
Neonatal diabetes mellitus
neonatal diabetes mellitus, congenital hypothyroidism, glaucoma, polycystic kidneys, cholestasis, hepatic fibrosis
NewbornDx™Coverage: 100%
GLI3
Pallister-Hall syndrome
macrocephaly, hypertelorism, polydactyly, cutaneous syndactyl, bifid epiglottis, hypothalamic hamartoma
NewbornDx™Coverage: 100%
GLI2
HoloprosencephalyCuller-Jones syndrome
hypopituitarism, growth hormone deficiency, and/or postaxial polydactyly
NewbornDx™Coverage: 99%
GLE1
Lethal congenital contracture syndromeLethal arthrogryposis, with anterior horn cell disease
congenital nonprogressive joint contractures
NewbornDx™Coverage: 99%
GLDC
Non-ketotic hyperglycinemia
lethargy, hypotonia, myoclonic jerks, intractable seizures, progressing to apnea, mental retardation
NewbornDx™Coverage: 100%
GLB1
Mucopolysaccharidosis type IV
developmental regression, hepatosplenomegaly, skeletal abnormalities, seizures, profound intellectual disability, corneal clouding, retinopathy, cherry-red spot, cardiomyopathy, gingival hypertrophy
NewbornDx™Coverage: 100%
GLA
Fabry Disease
angiokeratomas, acroparesthesias (episodic pain crises), hypohidrosis, cardiac disease, cerebrovascular manifestations
NewbornDx™Coverage: 100%
GJC2
Hypomyelinating leukodystrophy
nystagmus, truncal hypotonia with hypertonia, global developmental delay, diffuse cerebral hypomyelination
NewbornDx™Coverage: 97%
GJB4
Erythrokeratodermia variabilis with erythema gyratum repens
widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses
NewbornDx™Coverage: 100%
GJB2
Non-syndromic hearing lossKeratitis-ichthyosis-deafness syndrome
sensorineural hearing loss, hyperkeratotic skin lesions, susceptibility to mucocutaneous infections
NewbornDx™Coverage: 100%
GJA1
Atrioventricular septal defectOculodentodigital dysplasiaHypoplastic left heart syndrome
congestive cardiac failure, atrioventricular canal defect
NewbornDx™Coverage: 100%
GH1
Kowarski syndrome
growth retardation and delayed bone age, normal or slightly increased GH secretion, pathologically low IGF1
NewbornDx™Coverage: 100%
GFPT1
Congenital myasthenic syndrome
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 97%
GFM2
Neurodevelopmental disorder with diabetes
microcephaly, insulin-dependent diabetes, lack of development
NewbornDx™Coverage: 93%
GFM1
Combined oxidative phosphorylation deficiency
growth retardation, microcephaly, hypertonicity, axial hypotonia, cardiomyopathy, liver dysfunction, elevated serum lactate and pyruvate, refractory seizures
NewbornDx™Coverage: 99%
GFI1
Severe congenital neutropenia
neutrophil count of zero, marked monocytosis, recurrent infections, normal T and B lymphocyte
NewbornDx™Coverage: 100%
GFER
Combined mitochondrial complex deficiency
congenital cataract, muscular hypotonia, sensorineural hearing loss, developmental delay
NewbornDx™Coverage: 100%
GFAP
Alexander disease
seizures, hydrocephalus, severe motor and intellectual disability, elevated CSF protein concentration, white matter changes, seizures
NewbornDx™Coverage: 95%
GDNF
Central hypoventilation syndrome
abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion
NewbornDx™Coverage: 100%
GDF6
Leber congenital amaurosisKlippel-Feil syndrome
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
GDF5
Acromesomelic chondrodysplasia
shortening of hands and feet, fingers and toes lack articulation and appear as skin appendages
NewbornDx™Coverage: 100%
GDF3
MicrophthalmiaKlippel-Feil syndrome
short neck, low posterior hairline, limited neck movement
NewbornDx™Coverage: 100%
GDF1
Right atrial isomerismTetralogy of FallotTransposition of the great arteries, dextro-looped
congenital heart defects
NewbornDx™Coverage: 77%
GDAP1
Charcot-Marie-Tooth disease
progressive weakness of the distal muscles in the feet and/or hands, high-arched feet, weak ankle dorsiflexion, distal sensory loss
NewbornDx™Coverage: 99%
GCSH
Non-ketotic hyperglycinemia
hypotonia, coma, developmental delay, difficult to treat seizures
NewbornDx™Coverage: 80%
GCK
Familial hyperinsulinism
low birth weight, limb contractures, clinodactyly, muscle weakness, seizures, hypotonia, hyperglycemia
NewbornDx™Coverage: 100%
GCH1
BH4-deficient hyperphenylalaninemiaGTP cyclohydrolase 1-deficient dopa-responsive dystonia
poor feeding, swallowing difficulties, hypotonia, hyperphenylalaninemia, seizures, abnormal ocular movements, irritability, lethargy, rigidity
NewbornDx™Coverage: 94%
GCDH
Glutaric acidemia, type I
macrocephaly, failure to thrive, hypotonia, dystonia, rigidity, acute subdural hemorrhage
NewbornDx™Coverage: 100%
GBE1
Glycogen storage diseaseAdult polyglucosan body disease
severe hypotonia, dilated cardiomyopathy, respiratory distress
NewbornDx™Coverage: 99%
GBA
Gaucher disease
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%
GATM
L-arginine:glycine amidinotransferase deficiency
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%
GATAD2B
Syndromic mental retardation
developmental delay, deeply set eyes, tubular nose with a broad nasal tip, a large mouth with a thin upper lip, hypotonia during infancy, behavorial (hyperactivity, inappropriate laughter, obsession for shiny objects, and mild self-mutilation), severe intellectual disability strabismus
NewbornDx™Coverage: 100%
GATA6
Congenital cardiac defectsPancreatic agenesis and congenital heart defects
non-syndromic congenital heart defects, atrial septal defect (ASD), Tetralogy of Fallot
NewbornDx™Coverage: 76%
GATA4
Congenital cardiac defects
congential heart defect including atrial septal defect (ASD), Tetralogy of Fallot, ventricular septal defect (VSD)
NewbornDx™Coverage: 87%
GATA3
Hypoparathyroidism, sensorineural deafness, and renal Disease
sensorineural hearing loss, renal dysplasia, nephrosis, progressive renal failure, hypoparathyroidism
NewbornDx™Coverage: 100%
GATA1
Anemia
thrombocytopenia and/or anemia ranging from mild to severe
NewbornDx™Coverage: 100%
GARS
Charcot-Marie-Tooth disease
presence of sensory deficits including reduction of pinprick, temperature, touch, and vibration perception
NewbornDx™Coverage: 96%
GAMT
Guanidinoacetate methyltransferase deficiency
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%
GALT
Galactosemia
poor feeding, failure to thrive, hypoglycemia, hepatocellular damage, bleeding diathesis, jaundice
NewbornDx™Coverage: 100%
GALK1
Galactokinase deficiency
cataracts, increased plasma concentration of galactose, elevated urinary excretion of galactitol
NewbornDx™Coverage: 100%
GALE
Epimerase-deficienct galactosemia
hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, liver dysfunction, aminoaciduria, cataracts
NewbornDx™Coverage: 100%
GAD1
Cerebral palsy, spastic quadriplegic
hypertonicity, hyperreflexia, and extensor plantar responses, contractures
NewbornDx™Coverage: 100%
GABRG2
Familial epilepsy
early-onset isolated febrile seizures to generalized epilepsy
NewbornDx™Coverage: 92%
GABRD
Familial epilepsy
idiopathic generalized epilepsy
NewbornDx™Coverage: 95%
GABRB3
Familial epilepsy
eyelid myoclonias, photic sensitivity, generalized tonic-clonic seizures
NewbornDx™Coverage: 100%
GABRA1
Epileptic encephalopathy
seizures, mild-to-moderate intellectual disability
NewbornDx™Coverage: 100%
GAA
Glycogen storage disease
hypotonia, myopathy, hepatomegaly
NewbornDx™Coverage: 100%
G6PD
Glucose-6-phosphate dehydrogenase deficiency
chronic and drug-, food-, or infection-induced hemolytic anemia
NewbornDx™Coverage: 96%
G6PC3
Congenital severe neutropenia
severe neutropenia with recurrent infections, congenital heart defects, urogenital anonamlies, growth hormone deficiency
NewbornDx™Coverage: 100%
G6PC
Glycogen storage disease
severe hypoglycemia, hepatomegaly, lactic acidosis, fat cheeks, relatively thin extremities, short stature, protuberant abdomen
NewbornDx™Coverage: 100%
F
FUCA1
Fucosidosis
developmental delay, developmental regression, dysostosis multiplex, seizures, spasticity, angiokeratomas, coarse facies, hepatosplenomegaly
NewbornDx™Coverage: 99%
FTO
Growth retardation, developmental delay, facial dysmorphism
failure to thrive, developmental delay, microcephaly, lissencephaly, seizures, or Dandy-Walker malformation
NewbornDx™Coverage: 100%
FTCD
Glutamate formiminotransferase deficiency
intellectual disability, formiminoglutamic aciduria, hyperfolicacidemia, hypersegmentation of neutrophil nuclei
NewbornDx™Coverage: 93%
FRMD7
Congenital nystagmus
conjugate, horizontal oscillations of the eyes (primary or eccentric gaze)
NewbornDx™Coverage: 96%
FREM2
Fraser syndrome
cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal malformation, genitourinary malformations, oral clefting
NewbornDx™Coverage: 100%
FREM1
Manitoba oculotrichoanal syndrome
eyelid colobomas, cryptophthalmos, anophthalmia/microphthalmia, gastrointestinal anomalies such as omphalocele and anal stenosis
NewbornDx™Coverage: 100%
FRAS1
Fraser syndrome
cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal malformation, genitourinary malformations, oral clefting
NewbornDx™Coverage: 100%
FOXRED1
Mitochondrial complex I deficiency
hypotonia, lactic acidosis, irritability, acquired microcephaly, cortical blindness, seizures, white matter abnormalities
NewbornDx™Coverage: 100%
FOXP3
Immunodysregulation, polyendocrinopathy, and enteropathy
diarrhea, type 1 diabetes mellitus, dermatitis
NewbornDx™Coverage: 98%
FOXP2
Severe orofacial dyspraxia
incomprehensible speech, abnormal speech
NewbornDx™Coverage: 99%
FOXP1
Syndromic mental retardation
global delay, severely delayed speech development, behavioral abnormalities
NewbornDx™Coverage: 100%
FOXL2
Blepharophimosis, epicanthus inversus, and ptosis
blepharophimosis, ptosis, epicanthus inversus syndrome (with or without premature ovarian failure)
NewbornDx™Coverage: 93%
FOXI1
Pendred syndrome
hearing loss associated with enlarged vestibular aqueduct, goiter
NewbornDx™Coverage: 100%
FOXH1
Congenital cardiac defects
structural cardiac defects including Tetralogy of Fallot, ventricular septal defect, isolated transposition of the great arteries
NewbornDx™Coverage: 100%
FOXG1
Congenital variant Rett syndrome
progressive postnatal microcephaly, neonatal hypotonia, neonatal irritability, developmental regression at 6 months, abnormal breathing patterns, seizures onset at 3 months
NewbornDx™Coverage: 81%
FOXF1
Alveolar capillary dysplasia with misalignment of pulmonary veins
failure of formation and ingrowth of alveolar capillaries, respiratory distress
NewbornDx™Coverage: 100%
FOXE3
Congenital primary aphakia
absence of lens
NewbornDx™Coverage: 46%
FOXE1
Bamforth-Lazarus syndrome
thyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, bifid epiglottis
NewbornDx™Coverage: 98%
FOXC2
Lymphedema-distichiasis syndrome
lymphedema of the limbs, double rows of eyelashes, corneal irritation, recurrent conjunctivitis
NewbornDx™Coverage: 94%
FOXC1
Axenfeld-Rieger syndrome
glaucoma, iris hypoplasia, schwalbe line, hearing loss, flat midface, hypodonia, small teeth
NewbornDx™Coverage: 68%
FOLR1
Cerebral folate transport deficiency
severe developmental regression, seizures, motor dysfunction, disturbed myelination
NewbornDx™Coverage: 100%
FLVCR2
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
hydranencephaly, diffuse ischemic lesions of the brain stem, basal ganglia, spinal cord with calcifications
NewbornDx™Coverage: 100%
FLT4
Hereditary lymphedema
chronic swelling of body parts, nail dysplasia
NewbornDx™Coverage: 98%
FLNB
Larsen syndromeSpondylocarpotarsal synostosis syndrome
dislocations of the hip, knee and elbow joints, foot deformities, short stature, dysmorphic facial features
NewbornDx™Coverage: 100%
FLNA
FG syndromePeriventricular nodular heterotopiaFrontometaphyseal dysplasia
congenital hypotonia, relative macrocephaly, dysmorphic facies, anal anomalies or severe constipation
NewbornDx™Coverage: 100%
FLG
Congenital ichthyosis
mild ichthyosis/xerosis, keratosis pilaris, hyperlinear palms and soles
NewbornDx™Coverage: 98%
FKTN
Muscular dystrophy-dystroglycanopathy
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 97%
FKRP
Fukuyama congenital muscular dystrophyMuscular dystrophy-dystroglycanopathy
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%
FKBP14
Ehlers-Danlos syndrome
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 100%
FKBP10
Osteogenesis Imperfecta
epidermolysis bullosa, absences of dentinogenesis imperfecta, bone fragility and low bone mass, congenital joint contractures
NewbornDx™Coverage: 100%
FIG4
Yunis-Varon Syndrome
cleidocranial dysplasia (absent clavicles, macrocrania, diastasis of sutures), absent thumbs and distal phalanges of fingers, severe neurologic involvement
NewbornDx™Coverage: 96%
FH
Fumarate hydrotase deficiency
failure to thrive, developmental delay, hypotonia, cerebral atrophy, lactic and pyruvic acidemia, microcephaly
NewbornDx™Coverage: 100%
FGG
Congenital afibrinogenemia
uncontrolled bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system
NewbornDx™Coverage: 96%
FGFR3
AchondroplasiaThanatophoric dysplasia
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%
FGFR2
Apert syndromeBeare-Stevenson syndromeBent bone dysplasia syndromeCrouzon syndromeSaethre-Chotzen syndrome
turribrachycephalic skull shape, moderate-to-severe midface hypoplasia, syndactyly of fingers
NewbornDx™Coverage: 100%
FGFR1
Hartsfield Syndrome
holoprosencephaly, ectrodactyly, cleft/lip palate
NewbornDx™Coverage: 100%
FGF8
Hypogonadotropic hypogonadism
absent or incomplete sexual maturation by the age of 18 years, low levels of circulating gonadotropins and testosterone
NewbornDx™Coverage: 90%
FGF3
Congenital deafness with labyrinthine aplasia microtia and microdontia
congenital profound sensorineural hearing loss, labyrinthine aplasia, microtia, michel aplasia, microdontia
NewbornDx™Coverage: 95%
FGF10
Lacrimo-auriculo-dento-digital
irritable eyes, epiphora (constant tearing), xerostomia (dryness of the mouth), hand deformities
NewbornDx™Coverage: 100%
FGD4
Charcot-Marie-Tooth disease
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%
FGD1
Aarskog-Scott syndrome
short stature, hypertelorism, shawl scrotum, brachydactyly
NewbornDx™Coverage: 96%
FGB
Congenital afibrinogenemia
uncontrolled bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, risk of intracranial hemorrhage
NewbornDx™Coverage: 100%
FGA
Congenital afibrinogenemiaFamilial visceral amyloidosis
prolonged bleeding from umbilical cord stump, nosebleeds, bleeding of gums, prolonged bleeding following minor trauma, spontaneous bleeding
NewbornDx™Coverage: 100%
FERMT3
Leukocyte adhesion deficiency
recurrent bacterial and fungal infections, delayed wound healing, hepatmegaly, splenomegaly, petachiae, normal platelet count with defect platelet adhesion
NewbornDx™Coverage: 100%
FERMT1
Kindler syndrome
congenital blistering, skin atrophy, photosensitivity, skin fragility, scaling
NewbornDx™Coverage: 98%
FECH
Erythropoietic protoporphyria
light-sensitive dermatitis, itching and burning, develop erythema even after brief exposure to bright light
NewbornDx™Coverage: 99%
FBXW4
Split-hand/foot malformation
cleft of hand and/or foot due to the absence of central rays
NewbornDx™Coverage: 94%
FBXL4
Mitochondrial DNA depletion syndrome
severe psychomotor delay with hypotonia, failure to thrive, swallowing difficulties, lactic acidosis, muscle wasting, severe truncal ataxia
NewbornDx™Coverage: 100%
FBP1
Fructose 1,6 bisphosphatase deficiency
hypoglycemia, lactic acidosis, hyperventilation, hepatomegaly
NewbornDx™Coverage: 100%
FBN2
Congenital contractural arachnodactyly
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%
FBN1
Marfan syndrome
aortic root enlargement, ectopia lentis, pectus abnormalities, wrist and/or thumb sign, pneumothorax, reduced elbow extension, skin striae
NewbornDx™Coverage: 100%
FBLN5
Cutis laxa
furrowing of the skin of the whole body, pulmonary emphysema, peripheral pulmonary artery stenosis
NewbornDx™Coverage: 100%
FBLN1
Synpolydactyly
metatarsal fusion, metacarpal fusion, synpolydactyly between the third and fourth fingers
NewbornDx™Coverage: 97%
FAT4
Hennekam lymphangiectasia-lymphedema syndromeVan Maldergem syndrome
generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs, facial dysmorphism, cognitive impairment
NewbornDx™Coverage: 100%
FASTKD2
Mitochondrial complex IV deficiency
developmental delay, hemiplegia, convulsions, asymmetric brain atrophy, low cytochrome C oxidase activity in skeletal muscles
NewbornDx™Coverage: 99%
FASLG
Autoimmune lymphoproliferative syndrome
non-malignant lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune disease
NewbornDx™Coverage: 100%
FAS
Autoimmune lymphoproliferative syndrome
non-malignant lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune disease
NewbornDx™Coverage: 100%
FARS2
Combined oxidative phosphorylation deficiency
global developmental delay, lactic acidosis, uncontrolled seizures, poor growth, hypotonia, aneamia, hypotonia, anemia, thrombocytopenia
NewbornDx™Coverage: 100%
FAR1
Peroxisomal fatty acyl-CoA reductase disorder
severely delayed psychomotor development, growth retardation, microcephaly, seizures
NewbornDx™Coverage: 98%
FANCL
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 91%
FANCI
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 99%
FANCG
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
FANCF
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 100%
FANCE
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 91%
FANCD2
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 98%
FANCC
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 99%
FANCB
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 96%
FANCA
Fanconi anemia
short stature, abnormal skin pigmentation, multi-systemic malformations, risk of solid tumors
NewbornDx™Coverage: 97%
FAM20C
Raine syndrome
neonatal osteosclerotic bone dysplasia
NewbornDx™Coverage: 96%
FAM126A
Hypomyelinating leukodystrophy
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%
FAH
Tyrosinemia, type I
liver dysfunction, renal tubular dysfunction, growth failure, rickets
NewbornDx™Coverage: 100%
FADD
Recurrent infections with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations
recurrent infections, encephalopathy, liver dysfunction, elevated transaminases without cholestasis, cardiovascular malformations
NewbornDx™Coverage: 100%
F9
Hemophilia
frequent spontaneous joint or deep muscle bleeds, prolonged bleeding after relatively minor trauma
NewbornDx™Coverage: 88%
F8
Hemophilia
frequent spontaneous joint or deep muscle bleeds, prolonged bleeding after relatively minor trauma
NewbornDx™Coverage: 99%
F7
Factor VII deficiency
epistaxis, menorrhagia, hemarthrosis, intramuscular hematomas, intracranial hemorrhage
NewbornDx™Coverage: 100%
F5
Factor V Leiden thrombophilia
venous thromboembolism, deep vein thrombosis, pulmonary embolism
NewbornDx™Coverage: 98%
F2
Dysprothrombinemia/Hypoprothrombinemia/Thrombophilia
reduce the activity of prothrombin, severe bleeding episodes
NewbornDx™Coverage: 100%
F13B
Factor XIII subunit deficiency
increased bleedin, poor wound healing
NewbornDx™Coverage: 96%
F13A1
Factor XIII subunit deficiency
abnormal bleeding from the umbilical cord stump, risk of spontaneous bleeing, easy bruising, abnormal scar formation
NewbornDx™Coverage: 100%
F11
Factor XI deficiency
bleeding disorder characterized by reduced levels of factor XI in plasma
NewbornDx™Coverage: 97%
F10
Factor X deficiency
prolonged or excessive bleeding following surgery or trauma, easy bleeding
NewbornDx™Coverage: 99%
E
EZH2
Weaver syndrome
tall stature, retrognathia, large and fleshy ears, advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers or toes, umbilical hernia
NewbornDx™Coverage: 100%
EYA1
Branchiootorenal spectrum disorders
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%
EXPH5
Epidermolysis bullosa
trauma-induced scale crusts and intermittent skin blistering, mild diffuse mottled hyper- and hypopigmentation on the trunk and proximal limbs
NewbornDx™Coverage: 100%
EXOSC3
Pontocerebellar hypoplasia
cerebellar and spinal motor neuron degeneration beginning at birth, progressive microcephaly, diffuse muscle weakness, global developmental delay
NewbornDx™Coverage: 100%
EXOC4
Meckel syndrome
cystic kidney disease, occipital encephalocele, polydactyly
NewbornDx™Coverage: 100%
EVC2
Ellis-van Creveld syndromeWeyers acrofacial dysostosis
short-limb dwarfism, normocephaly, neonatal teeth, short ribs, narrow chest, difficulty forming a fist, postaxial polydactyly, nail dysplasia, genu valgum
NewbornDx™Coverage: 96%
EVC
Ellis-van Creveld syndromeWeyers acrofacial dysostosis
short-limb dwarfism, normocephaly, neonatal teeth, short ribs, narrow chest, difficulty forming a fist, postaxial polydactyly, nail dysplasia, genu valgum
NewbornDx™Coverage: 94%
ETHE1
Ethylmalonic encephalopathy
developmental delay, developmental regression, hypotonia, seizures, petechiae, acrocyanosis, chronic diarrhea, failure to thrive, lactic acidosis
NewbornDx™Coverage: 99%
ETFDH
Glutaric acidemia, type II
nonketotic hypoglycemia, metabolic acidosis, poor feeding, vomiting, hypotonia, macrocephaly, polycystic kidneys, hepatomegaly, facial dysmorphism, respiratory destress, genital anomalies
NewbornDx™Coverage: 98%
ETFB
Glutaric acidemia, type II
nonketotic hypoglycemia, metabolic acidosis, poor feeding, vomiting, hypotonia, macrocephaly, polycystic kidneys, hepatomegaly, facial dysmorphism, respiratory destress, genital anomalies
NewbornDx™Coverage: 100%
ETFA
Glutaric acidemia, type II
nonketotic hypoglycemia, metabolic acidosis, poor feeding, vomiting, hypotonia, macrocephaly, polycystic kidneys, hepatomegaly, facial dysmorphism, respiratory destress, genital anomalies
NewbornDx™Coverage: 99%
ESCO2
Roberts syndromeSC phocomelia syndrome
short arm and leg bones, contractures, micrognathia, hypertelorism, microcephaly
NewbornDx™Coverage: 91%
ERMARD
Periventricular nodular heterotopia
periventricular nodular heterotopia
NewbornDx™Coverage: 99%
ERLIN2
Spastic paraplegia
progressive lower extremity spastic weakness
NewbornDx™Coverage: 98%
ERF
Craniosynostosis
prominent forehead, hypertelorism, exorbitism, midface hypoplasia, retrognathia, variable synostosis
NewbornDx™Coverage: 100%
ERCC8
Cockayne syndrome
failure to thrive, little or no development, congenital cataracts, joint contractures, distinctive facial features, kyphosis, sensorienural hearing loss, no language skills
NewbornDx™Coverage: 93%
ERCC6
Cockayne syndrome
failure to thrive, little or no development, congenital cataracts, joint contractures, distinctive facial features, kyphosis, sensorienural hearing loss, no language skills
NewbornDx™Coverage: 100%
ERCC5
Cerebrooculofacioskeletal syndromeXeroderma pigmentosum
prenatal onset arthrogryposis, microcephaly, growth failure, developmental delay, marked UV sensitivity of the skin
NewbornDx™Coverage: 98%
ERCC4
Fanconi anemiaXeroderma pigmentosum
short stature, microcephaly, biliary atresia, absent thumbs, esophageal atresia, bone marrow failure
NewbornDx™Coverage: 99%
ERCC3
Xeroderma pigmentosum
skin sensitivity to sun, freckle-like pigmentation on skin with exposed to sun
NewbornDx™Coverage: 100%
ERCC2
Xeroderma pigmentosum
skin sensitivity to sun, freckle-like pigmentation on skin with exposed to sun
NewbornDx™Coverage: 100%
ERCC1
Cerebrooculofacioskeletal syndrome
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%
ERBB3
Lethal congenital contracture syndrome
congenital contractures, high myopia, degenerative vitreoretinopathy, distended urinary bladder, multiple pterygia, bone fractures, normal cognitive development
NewbornDx™Coverage: 100%
EPM2A
Progressive myoclonic epilepsy
progressive neurodegeneration, progressive myoclonic epilepsy, mental deterioration, gait disturbances
NewbornDx™Coverage: 95%
EPHA2
Cataracts
opacification of the crystalline lens
NewbornDx™Coverage: 100%
EPG5
Vici syndrome
corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, variable immunodeficiency
NewbornDx™Coverage: 100%
EPB42
Spherocytosis
hemolytic anemia, neonatal jaundice
NewbornDx™Coverage: 100%
EP300
Rubinstein-Taybi syndrome
broad and often angulated thumbs and great toes, short stature, moderate to severe intellectual disability
NewbornDx™Coverage: 99%
EOGT
Adams-Oliver syndrome
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 97%
ENPP1
Generalized arterial calcification of infancy
internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation
NewbornDx™Coverage: 86%
ENG
Hereditary hemorrhagic telangiectasia
arteriovenous malformations of skin, mucosa, and viscera
NewbornDx™Coverage: 100%
EMX2
Schizencephaly
full-thickness cleft within the cerebral hemispheres
NewbornDx™Coverage: 100%
EML1
Schizencephaly
atypical heterotopia, epilepsy, intellectual disability
NewbornDx™Coverage: 97%
ELOVL4
Ichthyosis
collodion membrane, dry ichthyotic skin, profound developmental delay, refractory seizures, hypertonia, normal hair and nails
NewbornDx™Coverage: 100%
ELN
Williams syndrome
loose and/or wrinkled skin giving a prematurely aged appearance
NewbornDx™Coverage: 100%
ELANE
Severe congenital neutropenia
severe congenital neutropenia
NewbornDx™Coverage: 100%
ELAC2
Combined oxidative phosphorylation deficiency
poor growth, hypotonia, lactic acidosis, delayed psychomotor development after normal early development in the first few months of life
NewbornDx™Coverage: 100%
EIF2B4
Leukoencephalopathy with vanishing white matter
progressive cerebellar ataxia, spasticity, white matter lesions, regression, hypotonia, sudden onset of seizures, hyperventilation
NewbornDx™Coverage: 100%
EIF2AK4
Pulmonary venoocclusive disease
pulmonary arterial hypertension, dyspnea, lymph node enlargement, spetal lines, ground-glass opacities
NewbornDx™Coverage: 99%
EIF2AK3
Multiple epiphyseal dysplasia with early-onset diabetes mellitus
permanent insulin-dependent diabetes, epiphyseal dysplasia, osteoporosis, growth retardation
NewbornDx™Coverage: 98%
EHMT1
Kleefstra syndrome
severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, macroglossia, conotruncal heart defects
NewbornDx™Coverage: 99%
EHHADH
Fanconi syndrome
metabolic acidosis, hyperphosphaturia, hypercalciuria, aminoaciduria, glucosuria, and proteinuria, impaired growth, rickets
NewbornDx™Coverage: 100%
EGR2
Charcot-Marie-Tooth disease
severe demyelinating neuropathy
NewbornDx™Coverage: 100%
EFTUD2
Mandibulofacial dysostosis
progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags
NewbornDx™Coverage: 100%
EFHC1
Familial epilepsy
seizures including absence seizures, generalized tonic-clonic seizures, myoclonic seizures
NewbornDx™Coverage: 99%
EFEMP2
Cutis laxa
emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, fragility of blood vessels
NewbornDx™Coverage: 90%
EEF1A2
Epileptic encephalopathy
hypotonia, refractory seizures with hypsarrhythmia, severe developmental delay with episodic regression, acquired microcephaly, hypotonia, incoordination
NewbornDx™Coverage: 100%
EDNRB
Waardenburg syndrome
sensorineural hearing loss, hypopigmented irides, Hirschsprung disease, white forelock, white eyelashes, white eyebrows
NewbornDx™Coverage: 100%
EDN3
Central hypoventilation syndrome (CHS)Waardenburg syndrome
hypoventilation, absent perception of asphyxia, autonomic nervous system dysregulation
NewbornDx™Coverage: 100%
EDARADD
Ectodermal dysplasia
hyptorichosis, hypohidrosis, hypodontia
NewbornDx™Coverage: 99%
EDAR
Ectodermal dysplasia
hyptorichosis, hypohidrosis, hypodontia
NewbornDx™Coverage: 100%
EDA
Ectodermal dysplasia
hyptorichosis, hypohidrosis, hypodontia
NewbornDx™Coverage: 83%
ECHS1
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
hypotonia, episodic apnea, spasticity, dystonia, white matter abnormalities, elevated serum and CSF lactate
NewbornDx™Coverage: 100%
ECEL1
Distal arthrogryposis
camptodactyly of the hands, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee
NewbornDx™Coverage: 96%
EBP
Chondrodysplasia punctata
stippling of long bones, spinal bones and traceha, shortening of arm and thigh bones, kyphoscoliosis, dry, scaly skin, abnormal hair growth
NewbornDx™Coverage: 100%
EARS2
Combined oxidative phosphorylation deficiency
seizures, hypotonia, seizures, dystonia, visual deficits, absence of speech, no head control, failure to thrive, hepatomegaly, white matter abnormalities
NewbornDx™Coverage: 100%
D
DYX1C1
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 84%
DYSF
Limb-girdle muscular dystrophyMiyoshi muscular dystrophy
muscle weakness and muscle atrophy of shoulders, hips, thighs, and upper arms
NewbornDx™Coverage: 100%
DYRK1A
Syndromic mental retardation
microcephaly, severe mental retardation without speech, failure to thrive, abnormal movments, febrile seizures, dysmorphic features
NewbornDx™Coverage: 100%
DYNC2H1
Short-rib thoracic dysplasia
constricted thoracic cage, short ribs, shortened tubular bones, 'trident' appearance of the acetabular roof
NewbornDx™Coverage: 91%
DYNC1H1
Syndromic mental retardationSpinal muscular atrophy
muscular atrophy of the proximal lower extremities, weakness and atrophy of the quadriceps muscles
NewbornDx™Coverage: 100%
DYM
Dyggve-Melchior-Clausen diseaseSmith-McCort dysplasia
progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, intellectual disability
NewbornDx™Coverage: 97%
DUOXA2
Thyroid dyshormonogenesis
goiter, hypothyroidism, low or low-normal T4, absent or abnormal thyroglobulin
NewbornDx™Coverage: 100%
DUOX2
Thyroid dyshormonogenesis
congenital hypothyroidism, iodide organification defect, low T3 and T4, elevated TSH
NewbornDx™Coverage: 100%
DTNA
Left ventricular non-compaction cardiomyopathy
hypertrophic left ventricle with deep trabeculations and poor systolic function
NewbornDx™Coverage: 99%
DSTYK
Congenital anomalies of kidney and urinary tract
structural anomalies range from complete renal agenesis to renal hypodysplasia
NewbornDx™Coverage: 100%
DST
Epidermolysis bullosa
trauma-induced blistering mainly occurring on the feet and ankles, blisters and erosions healed without delay, scarring, or milia formation
NewbornDx™Coverage: 100%
DSP
Epidermolysis bullosa
progressive erosions without blistering, alopecia and loss of nails, neonatal teeth, pseudosyndactyly, clinodactyly, ear helices abnormalities
NewbornDx™Coverage: 99%
DSG1
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper IgE
recurrent infections, congenital generalized erythroderma, erosions, scaling, hyperkeratotic yellowish papules and plaques linearly on palms and fingers, hypotrichosis, severe hypernatremia
NewbornDx™Coverage: 96%
DSC2
Arrhythmogenic right ventricular dysplasia, mild palmoplantar keratoderma and woolly hair
ventricular arrhythmia, syncope, palpitations, palmoplantar keratoderma, wooly hair
NewbornDx™Coverage: 99%
DRC1
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 92%
DPYS
Dihydropyrimidinuria
potentially life-threatening toxic reactions to fluoropyrimidines including gastrointestinal problems and blood abnormalities
NewbornDx™Coverage: 100%
DPYD
Dihydropyrimidine dehydrogenase deficiency
microcephaly, failure to thrive, optic atrophy, structural eye abnormalities, seizures, hypotonia, hypertonia, white matter abnormalities
NewbornDx™Coverage: 97%
DPP6
Microcephaly and variable mental retardation
microcephaly, mild to severe intellectual disability
NewbornDx™Coverage: 96%
DPM3
Congenital disorder of glycosylation
intellectual disability, mild muscle weakness, dilated cardiomyopathy, stroke-like episodes
NewbornDx™Coverage: 100%
DPM2
Congenital disorder of glycosylation
failure to thrive, osteopenia, hypotonia, liver dysfunction, increased creatine kinase
NewbornDx™Coverage: 100%
DPM1
Congenital disorder of glycosylation
severe developmental delay, microcephaly, seizures, ocular hypertelorism, small hands with dysplastic nails, knee contractures
NewbornDx™Coverage: 86%
DPAGT1
Congenital disorder of glycosylation
hypotonia, intractable seizures, developmental delay, microcephaly, apnea and respiratory deficiency, cataracts, joint contractures
NewbornDx™Coverage: 100%
DOLK
Congenital disorder of glycosylation
hypotonia and ichthyosis, seizures, microcephaly
NewbornDx™Coverage: 100%
DOK7
Congenital myasthenic syndrome
fatigable weakness of skeletal muscle, respiratory insufficiency, feeding difficulties, poor suck and cry, choking spells, eyelid ptosis
NewbornDx™Coverage: 94%
DOCK8
Hyper-IgE syndrome
recurrent Staphylococcus aureus skin abscesses, increased serum IgE
NewbornDx™Coverage: 99%
DOCK7
Epileptic encephalopathy
intractable seizures, hypsarrhythmia, structural brain malformation, regression of early motor skills, cortical visual impairment
NewbornDx™Coverage: 96%
DOCK6
Adams-Oliver syndrome
aplasia cutis congenita of the scalp vertex, limb defects, vascular anomalies, motor delay
NewbornDx™Coverage: 99%
DNMT3B
Immunodeficiency-centromeric instability-facial anomalies syndrome
recurrent pulmonary infections, developmental delay, dysmorphic facial features
NewbornDx™Coverage: 100%
DNM2
Lethal congenital contracture syndromeCharcot-Marie-Tooth (CMT) disease
intermediate, symmetric, slowly progressive distal motor neuropathy of the arms and legs
NewbornDx™Coverage: 100%
DNM1L
Encephalopathy due to defective mitochondrial and peroxisomal fission
failure to thrive, poor feeding, microcephaly, optic atrophy, hypotonia, no development, little spontaneous movement, abnormal gyral patterns of frontal lobes
NewbornDx™Coverage: 94%
DNM1
Epileptic encephalopathy
normal physical examination at birth, therapy-resistant seizures, severe or profound intellectual disability with no speech, hypotonia
NewbornDx™Coverage: 93%
DNAL1
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 81%
DNAJC19
3-methylglutaconic aciduria
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%
DNAI2
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAI1
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAH5
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 99%
DNAH11
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAAF5
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 80%
DNAAF3
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAAF2
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNAAF1
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
DNA2
Progressive external ophthalmoplegia
external ophthalmoplegia, mild limb-girdle muscle weakness, mild ptosis, facial muscle weakness, myalgia, exertional dyspnea, elevated CK
NewbornDx™Coverage: 98%
DMD
Becker muscular dystrophyDuchenne muscular dystrophy
progressive symmetric muscle weakness and atrophy, preservation of neck flexor muscle strength
NewbornDx™Coverage: 98%
DLX5
Split-hand/foot malformation with sensorineural hearing loss
ectrodactyly of feet and hands
NewbornDx™Coverage: 100%
DLX3
Trichodentoosseous syndrome
curly kinky hair, enamel hypoplasia, taurodontism
NewbornDx™Coverage: 100%
DLL3
Spondylocostal dysostosis
multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs
NewbornDx™Coverage: 89%
DLG3
Syndromic mental retardation
delayed psychomotor development, narrow thorax, molar hypoplasia, short and upslanting palpebral fissures, high-arched palate, hypotonia
NewbornDx™Coverage: 99%
DLD
Dihydrolipoamide dehydrogenase deficiency
lactic acidosis, hypotonia, poor feeding, recurrent vomiting, hypoglycemia, lethargy, microcephaly, hepatomegaly, delayed psychomotor development, episodic encephalopathy, optic atrophy
NewbornDx™Coverage: 99%
DLAT
Pyruvate dehydrogenase deficiency
lactic acidosis, hypotonia, lethargy, seizures, microcephaly, ataxia, developmental delay
NewbornDx™Coverage: 99%
DKC1
Dyskeratosis congenita
abnormal skin pigmentation, nail dystrophy, leukoplakia of the oral mucosa
NewbornDx™Coverage: 94%
DISP1
Holoprosencephaly
holoprosencephaly-like microform
NewbornDx™Coverage: 100%
DIS3L2
Perlman Syndrome
large at birth, hypotonic, organomegaly, hydronephrosis, dysmorphic facial features, neurodevelopmental delay, risk of Wilms tumor
NewbornDx™Coverage: 100%
DICER1
DICER1-syndrome
risk for tumors including pleuropulmonary blastoma, ovarian sex cord-stromal tumors, cystic nephroma, thyroid gland neoplasia, rhabdomyosarcoma
NewbornDx™Coverage: 99%
DHTKD1
2-aminoadipic 2-oxoadipic aciduria
50% of the time asymptomatic, 50% have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, epilepsy
NewbornDx™Coverage: 97%
DHODH
Miller syndrome
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%
DHFR
Megaloblastic anemia
severe developmental delay and generalized seizures, megaloblastic anemia and/or pancytopenia
NewbornDx™Coverage: 100%
DHCR7
Smith-Lemli-Opitz syndrome
microcephaly, short stature, low birth weight, intellectual disability, 2-3 syndactyly of the toe, hypospadias, hypotonia, dysmorphic facial features
NewbornDx™Coverage: 100%
DHCR24
Desmosterolosis
multiple congenital anomalies, elevated levels of the cholesterol precursor
NewbornDx™Coverage: 100%
DGUOK
Mitochondrial DNA depletion syndrome
lactic acidosis, hypoglycemia, severe myopathy, developmental regression, rotary nystagmus, liver failure
NewbornDx™Coverage: 100%
DGKE
Nephrotic syndrome
acute renal failure
NewbornDx™Coverage: 93%
DGAT1
Congenital diarrhea
vomiting, colicky pain, congenital nonbloody watery diarrhea
NewbornDx™Coverage: 91%
DEPDC5
Familial epilepsy
focal seizures
NewbornDx™Coverage: 99%
DECR1
2,4-dienoyl-CoA reductase deficiency
persistent neonatal hypotonia, microcephaly, nystagmus, cortical blindness, encephalopathy, lack of development
NewbornDx™Coverage: 93%
DDX11
Warsaw breakage syndrome
hypotonia, pre- and postnatal growth retardation, microcephaly, sensorineural hearing loss due to rounded cochlea without visible cochlear turns or spirals, dysmorphic features, severe intellectual disability
NewbornDx™Coverage: 99%
DDR2
Spondylometaepiphyseal dysplasia
short stature, short limbs and short hands, retro/micrognathia, narrow chest
NewbornDx™Coverage: 100%
DDOST
Congenital disorder of glycosylation
failure to thrive, developmental delay, hypotonia, strabismus, hepatic dysfunction
NewbornDx™Coverage: 100%
DDC
Aromatic L-amino acid decarboxylase deficiency
hypotonia, poor feeding, hyperreflexia, impaired voluntary movements, irritability, sleep disturbances
NewbornDx™Coverage: 99%
DCX
Lissencephaly
lissencephaly, subcortical band heterotopia, cerebral palsy, epileptic seizures, global development delay
NewbornDx™Coverage: 99%
DCLRE1C
Severe combined immunodeficiency
oral thrush, diarrhea, failure to thrive, lymphopenia and hypogammaglobulinemia, reduced/absent CD3+ T cells
NewbornDx™Coverage: 99%
DCDC2
Nephronophthisis
hepatomegaly, hepatic fibrosis, splenomegaly, nephronophthisis
NewbornDx™Coverage: 99%
DBT
Maple syrup urine disease
maple syrup smelling cerumen, ketonuria, irritability, lethargy, intermittent apnea, opisthotonus, poor feeding, leucinosis, coma, respiratory failure, risk of brain edema
NewbornDx™Coverage: 97%
DBH
Dopamine beta-hydroxylase deficiency
delay in opening of the eyes, ptosis, hypotension, hypoglycemia, hypothermia
NewbornDx™Coverage: 100%
DARS2
Leukoencephalopathy
leukoencephalopathy in the periventricular and deep white matter, hyperreflexia, joint contractures, muscle atrophy and weakness, nystagmus
NewbornDx™Coverage: 100%
DARS
Hypomyelination with brainstem, spinal cord involvement, leg spasticity
severe spasticity of lower limbs, hypotonia, delayed motor development, nystagmus, hypomyelination and white matter lesions
NewbornDx™Coverage: 91%
DAG1
Limb-girdle muscular dystrophy/ Muscular dystrophy-dystroglycanopathy
brain and eye malformations, profound mental retardation, congenital muscular dystrophy
NewbornDx™Coverage: 100%
D2HGDH
D-2-hydroxyglutaric aciduria
macrocephaly, hypotonia, cardiomyopathy, developmental delay, encephalopathy, apnea, episodic vomiting, brain malformations
NewbornDx™Coverage: 100%
C
CYP7B1
Congenital bile acid synthesis defect
jaundice, hepatosplenomegaly and increased bleeding, elevated urinary bile acid excretion
NewbornDx™Coverage: 97%
CYP4F22
Congenital ichthyosis
lamellar ichthyosis, fine and white skin scales (more prominent in the knees, ankles, and ears)
NewbornDx™Coverage: 100%
CYP2R1
Rickets
rickets with normal vitamin D exposure, low normal serum calcium levels, low serum phosphate levels, elevated serum alkaline phosphatase levels
NewbornDx™Coverage: 100%
CYP27B1
Rickets
failure to thrive, frontal bossing, enamal hypoplasia, increased fractures, bone pain, lower limb deformities, hypotonia, difficulty walking, seizures, irritability
NewbornDx™Coverage: 100%
CYP27A1
Cerebrotendinous xanthomatosis
diarrhea, childhood-onset cataract, elevated plasma, CSF, tissue cholestanol concentration
NewbornDx™Coverage: 100%
CYP26C1
Focal facial dermal dysplasia
congenital bilateral vesicular lesions between ear and corner of mouth
NewbornDx™Coverage: 97%
CYP24A1
Hypercalcemia
failure to thrive, dehydration, hypotonia, medullary nephrocalcinosis
NewbornDx™Coverage: 100%
CYP1B1
Congenital glaucoma
increased intraocular pressure, increased corneal diameter, enlarged globe, optic nerve head cupping
NewbornDx™Coverage: 100%
CYP17A1
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia
ambiguous genitalia, hypertension, hypokalemic alkalosis, elevated ACTH, premature closure of the epiphyses
NewbornDx™Coverage: 100%
CYP11B2
Corticosterone methyloxidase deficiency
salt wasting, metabolic acidosis, vomiting, nausea, failure to thrive, seizures, coma
NewbornDx™Coverage: 100%
CYP11B1
Congenital adrenal hyperplasia
ambiguous genitalia, hypertension, cortisol deficiency
NewbornDx™Coverage: 100%
CYC1
Mitochondrial complex III deficiency
recurrent episodes of lactic acidosis and metabolic decompensation, insulin-responsive hyperglycemia, normal psychomotor development
NewbornDx™Coverage: 88%
CYB5R3
Methemoglobinemia
cyanosis, hypoxia, microcephaly, strabismus, developmental delay, hypertonia, spasticity
NewbornDx™Coverage: 97%
CXCR4
WHIM syndrome
chronic human papillomavirus (HPV) infection, recurrent upper respiratory infections, hypogammaglobulinemia, warts, peripheral neutropenia
NewbornDx™Coverage: 100%
CUL7
3-M syndrome
severe pre- and postnatal growth retardation, abnormal long bones, delayed bone age, deformed sternum, short thorax, dysmorphic facial features
NewbornDx™Coverage: 100%
CUL4B
Syndromic mental retardation
short stature, hypogonadism, abnormal gait, hypotonia followed by hypertonia, relative macrocephaly, seizures, mental retardation
NewbornDx™Coverage: 91%
CUBN
Megaloblastic anemia
congenital megaloblastic anemia due to vitamin B12 deficiency, proteinuria, normal serum folate levels
NewbornDx™Coverage: 100%
CTSK
Pycnodysostosis
skull deformity, bone fragility
NewbornDx™Coverage: 100%
CTSD
Neuronal ceroid lipofuscinosis
microcephaly, retinal degeneration, rigidity, seizures, cerebral and cerebellar atrophy, ataxia, seizures
NewbornDx™Coverage: 96%
CTSA
Galactosialidosis
fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia
NewbornDx™Coverage: 100%
CTRC
Hereditary pancreatitis
pancreatic insufficiency, hemorrhagic pleural effusion, portal or splenic vein thrombosis, diabetes mellitus
NewbornDx™Coverage: 100%
CTNS
Cystinosis/Nephropathic cystinosis/Non-nephropathic ocular cystinosis
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%
CTNNB1
Syndromic mental retardation
severe intellectual disability, microcephaly, spasticity
NewbornDx™Coverage: 100%
CTLA4
Autoimmune lymphoproliferative syndrome
thrombocytopenia, chronic lymphocytic enteropathy, diarrhea, hypogammaglobulinemia
NewbornDx™Coverage: 100%
CTDP1
Congenital cataracts, facial dysmorphism, and neuropathy
bilateral cataracts, microcornea, and micropupils, hypo/demyelinating peripheral neuropathy, dysmorphic facial features, short stature, intellectual disabilities
NewbornDx™Coverage: 85%
CTCF
Syndromic mental retardation
mild intellectual disability, short stature, microcephaly, cleft palate, atrial septal defect
NewbornDx™Coverage: 100%
CTC1
Cerebroretinal microangiopathy with calcifications and cysts
intracranial calcifications, leukodystrophy, brain cysts, spasticity, dystonia, seizures, cognitive decline, retinal telangiectasia and exudates
NewbornDx™Coverage: 99%
CSPP1
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 86%
CSF3R
Hereditary neutrophilia
recurrent infections, peripheral neutropenia
NewbornDx™Coverage: 100%
CRYGD
Cataracts
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
CRYGC
Cataracts
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
CRYBA1
Cataracts
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
CRYAB
Myofibrillar myopathy
progressive muscular rigidity
NewbornDx™Coverage: 100%
CRYAA
Cataracts
congenital opacification of the crystalline lens of the eye
NewbornDx™Coverage: 100%
CRX
Leber congenital amaurosis
severe vision loss, nystagmus, poor fixation
NewbornDx™Coverage: 100%
CRTAP
Osteogenesis Imperfecta
frequent fractures, normal birth length, narrow chest, bluish scleras, respiratory insufficiency, normal hearing, open sutures
NewbornDx™Coverage: 99%
CRHR1
Asthma, drug response
enhance response to inhaled corticosteroid therapy for asthma
NewbornDx™Coverage: 99%
CRHBP
Antenatal corticosteroid exposure, risk factor
risk for small gestational age
NewbornDx™Coverage: 0%
CRELD1
Heterotaxy syndromeAtrioventricular septal defect
partial atrioventricular septal defect, dextrocardia, pulmonary atresia, right aortic arch, aorta arises from right ventricle
NewbornDx™Coverage: 100%
CREBBP
Rubenstein-Taybi Syndrome
mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, dysmorphic facial features
NewbornDx™Coverage: 99%
CRB1
Leber congenital amaurosis
severe vision loss, nystagmus, poor fixation
NewbornDx™Coverage: 100%
CPT2
Carnitine palmitoyltransferase deficiency, type II
liver failure, hypoketotic hypoglycemia, cardiomyopathy, respiratory distress, cystic dysplastic kidneys, liver failure, peripheral muscle weakness
NewbornDx™Coverage: 100%
CPT1B
Carnitine palmitoyltransferase deficiency, type I
muscle weakness
NewbornDx™Coverage: 100%
CPT1A
Carnitine palmitoyltransferase deficiency, type I
hypoketotic hypoglycemia, hepatomegaly, renal tubular acidosis, poor feeding, hypotonia, recurrent hepatic encephalopathy with illness/infection
NewbornDx™Coverage: 100%
CPS1
Carbamoylphosphate synthetase I deficiency
lethargy, irritability, seizures, ataxia, abnormal movements, vomiting after feeding, developmental delay, respiratory alkalosis, poor regulation body temperature
NewbornDx™Coverage: 100%
CPOX
CoproporphyriaHarderoporphyria
neonatal hemolytic anemia, massive excretion of harderoporphyrin in feces
NewbornDx™Coverage: 100%
COX6B1
Mitochondrial complex IV deficiency
normal early development with regression, muscle weakness, unsteady gait, leukodystrophic brain changes and seizures, decreased vision
NewbornDx™Coverage: 100%
COX4I2
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosi
pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis
NewbornDx™Coverage: 100%
COX4I1
Leigh syndrome
delayed psychomotor development, dysmorphic facial features, hypotonia, ataxia, abnormalities of the brainstem and basal ganglia
NewbornDx™Coverage: 100%
COX20
Mitochondrial complex IV deficiency
cerebellar ataxia, dystonia, sensory axonal neuropathy, delayed motor development
NewbornDx™Coverage: 87%
COX15
Mitochondrial complex IV deficiency
microcephaly, lactic acidosis, respiratory distress, seizures, hypertrophic cardiomyopathy, limb spasticity
NewbornDx™Coverage: 100%
COX14
Mitochondrial complex IV deficiency
severe metabolic lactic acidosis, ketonuria, brain hypertrophy, abnormal myelination, numerous cavities throughout the brain, hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, adrenal hyperplasia
NewbornDx™Coverage: 100%
COX10
Mitochondrial complex IV deficiency
leukodystrophy, renal tubulopathy, muscle weakness, hypotonia, ataxia, ptosis, seizures
NewbornDx™Coverage: 100%
COQ9
Coenzyme Q10 deficiency
poor feeding, hypothermia, seizures, hypotonia, hypertonia, lactic acidosis, cerebral and cerebellar atrophy, decreased CoQ10 in muscle
NewbornDx™Coverage: 99%
COQ6
Coenzyme Q10 deficiency
progressive nephrotic syndrome, sensorineural hearing loss
NewbornDx™Coverage: 100%
COQ2
Coenzyme Q10 deficiency
muscle weakness, fatigue, liver failure, nephrotic syndrome, sensoineural hearing loss, vision loss, seziures, global developmental delay, decreased CoQ10 in muscle
NewbornDx™Coverage: 100%
COLQ
Congenital myasthenic syndrome
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 99%
COL9A1
Stickler syndrome
moderate to severe sensorineural hearing loss, myopia with vitreoretinopathy, epiphyseal dysplasia
NewbornDx™Coverage: 96%
COL7A1
Epidermolysis bullosa
fragile skin which heals with scarring and milia, skin blistering, dystrophic nails
NewbornDx™Coverage: 100%
COL6A3
Ullrich congenital muscular dystrophy
muscle weakness, multiple joint contractures
NewbornDx™Coverage: 0%
COL6A2
Ullrich congenital muscular dystrophy
muscle weakness, multiple joint contractures
NewbornDx™Coverage: 0%
COL6A1
Ullrich congenital muscular dystrophy
muscle weakness, multiple joint contractures
NewbornDx™Coverage: 0%
COL5A2
Ehlers-Danlos syndrome
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 97%
COL5A1
Ehlers-Danlos syndrome
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 96%
COL3A1
Ehlers-Danlos syndrome
skin hyperextensibility, articular hypermobility, and tissue fragility, hypotonia, congenital hip dislocation
NewbornDx™Coverage: 94%
COL2A1
Platyspondylic lethal skeletal dysplasiaStickler syndromeStickler syndromeSpondyloperipheral dysplasiaAchondrogenesisKniest dysplasia
short arms and legs, underdeveloped pelvic bones, flattened spinal bones, short fingers and toes, small chest with short ribs
NewbornDx™Coverage: 100%
COL1A2
Ehlers-Danlos syndromeOsteogenesis Imperfecta
skin hyperextensibility, abnormal wound healing, joint hypermobility
NewbornDx™Coverage: 99%
COL1A1
Ehlers-Danlos syndromeOsteogenesis ImperfectaCaffey disease
irritability, fever, soft tissue swelling, subperiosteal cortical hyperostosis of the diaphyses of the long bones, ribs, scapulea, clavicles, mandible
NewbornDx™Coverage: 99%
COL18A1
Knobloch syndrome
high myopia and retinal detachment, congenital occipital scalp defects, normal intelligence
NewbornDx™Coverage: 94%
COL17A1
Epidermolysis bullosa
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%
COL12A1
Bethlem myopathy
proximal myopathy, joint contractures, hypotonia
NewbornDx™Coverage: 99%
COL11A2
Otospondylomegaepiphyseal dysplasiaWeissenbacher-Zweymuller syndrome
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%
COL11A1
FibrochondrogenesisMarshall syndromeStickler syndromeStickler syndrome
severe skeletal abnormalities, hearing loss, vision loss, very narrow chest, respiratory failure
NewbornDx™Coverage: 97%
COG8
Congenital disorder of glycosylation
severe developmental delay, hypotonia, seizures, esotropia, failure to thrive, progressive microcephaly
NewbornDx™Coverage: 100%
COG7
Congenital disorder of glycosylation
micro- and retrognathia, short neck, wrinkled and loose skin, adducted thumbs, hypotonia, skeletal abnormalities, hepatosplenomegaly, jaundice, seizures, microcephaly, dysmorphic facial features
NewbornDx™Coverage: 100%
COG6
Congenital disorder of glycosylation
intractable seizures, vitamin K deficiency, intracranial bleeding
NewbornDx™Coverage: 93%
COG5
Congenital disorder of glycosylation
mild delay in motor and language development
NewbornDx™Coverage: 95%
COG4
Congenital disorder of glycosylation
complex seizures disorder treated with phenobarbital, hypotonia, microcephaly, ataxia, abnormal movements, global developmental delay, recurrent respiratory infections
NewbornDx™Coverage: 100%
COG1
Congenital disorder of glycosylation
feeding difficulties, failure to thrive, hypotonia, mild developmental delay, rhizomelic short stature, progressive microcephaly, cardiac abnormalities, hepatosplenomegaly
NewbornDx™Coverage: 100%
COA5
Fatal infantile cardioencephalomyopathy
hypertrophic cardiomyopathy
NewbornDx™Coverage: 100%
CNTNAP2
Pitt-Hopkins-like syndrome
severe mental retardation, coarse facial features, short stature, seizures, hypertrichosis, short great toes, breathing abnormalities
NewbornDx™Coverage: 100%
CNTNAP1
Lethal congenital contracture syndrome
congenital distal joint contractures, polyhydramnios, reduced fetal movements, severe motor paralysis
NewbornDx™Coverage: 100%
CNTN1
Congenital myopathy
severe hypotonia, muscle weakness, no spontaneous movements shortly after birth
NewbornDx™Coverage: 98%
CNNM2
Hypomagnesemia
low serum magnesium, delayed psychomotor development, moderate mental retardation
NewbornDx™Coverage: 100%
CLPP
Perrault syndrome
congenital severe to profound sensorineural hearing loss, ovarian dysgenesis, cerebellar ataxia
NewbornDx™Coverage: 100%
CLPB
3-methylglutaconic aciduria
encephalopathy, congenital neutropenia, microcephaly, movement abnormalities, delayed psychomotor development, recurrent infections, cataracts
NewbornDx™Coverage: 100%
CLP1
Pontocerebellar hypoplasia
severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, brain atrophy, delayed myelination, structural brain malformation
NewbornDx™Coverage: 100%
CLN8
Neuronal ceroid lipofuscinosis
progressive retinal degeneration, developmental standstill or regression, severe epilepsy
NewbornDx™Coverage: 100%
CLN6
Neuronal ceroid lipofuscinosis
progressive retinal degeneration, developmental standstill or regression, severe epilepsy, ataxia, myoclonus
NewbornDx™Coverage: 96%
CLN5
Neuronal ceroid lipofuscinosis
progressive retinal degeneration, cognitive and motor decline, seizures
NewbornDx™Coverage: 100%
CLN3
Neuronal ceroid lipofuscinosis
progressive severe vision loss, retinal degeneration, generalized tonic-clonic seizures and/or complex-partial seizures
NewbornDx™Coverage: 98%
CLMP
Congenital short bowel syndrome
short intestine
NewbornDx™Coverage: 100%
CLIC2
Syndromic mental retardation
delayed psychomotor development, seizures, large joint contractures, abnormal thumb positioning
NewbornDx™Coverage: 100%
CLDN19
Hypomagnesemia
nephrocalcinosis with idiopathic hypercalciuria, bilateral chorioretinal 'scars' in the macula, nystagmus, myopia
NewbornDx™Coverage: 100%
CLDN1
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
scalp hypotrichosis, scarring alopecia, leukocyte vacuolization, absent hair, eyelashes, eyebrows
NewbornDx™Coverage: 100%
CLCNKB
Bartter syndrome
polyhydramnios, low birth weight, dehydration, constipation, polyuria, osteopenia, nephrocalcinosis
NewbornDx™Coverage: 100%
CLCN7
Osteopetrosis
facial nerve palsy, diffuse symmetrical osterosclerosis, fragile bones, increased rate of bone fractures, pronounced skull base sclerosis, progressive sclerosis
NewbornDx™Coverage: 99%
CLCN5
Dent diseaseHypophosphatemic rickets
low molecular weight proteinuria, hypercalciuria, chronic kidney disease
NewbornDx™Coverage: 99%
CLCN4
Epileptic encephalopathy
epileptic encephalopathy, microcephaly, delayed psychomotor development, hypotonia, dystonia
NewbornDx™Coverage: 99%
CLCN1
Myotonia congenita
episodes of muscle stiffness (myotonia) or cramps
NewbornDx™Coverage: 100%
CITED2
Atrial septal defectVentricular septal defect
congenital structural cardiac defects
NewbornDx™Coverage: 100%
CHSY1
Temtamy preaxial brachydactyly syndrome
multiple congenital anomalies, mental retardation, sensorineural deafness, growth retardation, bilateral symmetric digital anomalies
NewbornDx™Coverage: 92%
CHST8
Peeling skin syndrome
continuous shedding of skin evidenced by generalized white scaling, most prominent over the upper and lower limbs
NewbornDx™Coverage: 100%
CHST3
Spondyloepiphyseal dysplasia with congenital joint dislocations
short stature, joint dislocations, club feet, kryphosis
NewbornDx™Coverage: 100%
CHST14
Ehlers-Danlos syndrome
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%
CHRNG
Escobar syndromeMultiple pterygium syndrome
webbing (pterygia) of the neck, elbows, and/or knees, joint contractures, muscle atrophy, dysmorphism, skeletal anomalies
NewbornDx™Coverage: 100%
CHRNE
Congenital myasthenic syndrome
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 98%
CHRND
Congenital myasthenic syndrome
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 100%
CHRNB1
Congenital myasthenic syndrome
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 100%
CHRNA7
Familial epilepsy
schizophrenia, epilepsy
NewbornDx™Coverage: 99%
CHRNA4
Nocturnal frontal lobe epilepsy
frequent violent and brief motor seizures occurring at night
NewbornDx™Coverage: 99%
CHRNA1
Congenital myasthenic syndrome
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 94%
CHRDL1
Megalocornea
megalocornea, normal intraocular pressure, corneal dystrophy, lens abnormalities, iridodenesis
NewbornDx™Coverage: 99%
CHN1
Duane retraction syndrome
restricted horizontal eye movement with globe retraction
NewbornDx™Coverage: 99%
CHMP1A
Pontocerebellar hypoplasia
microcephaly, poor postnatal growth, severe psychomotor retardation, spasticity, choreiform movement, hypotonia, brain malformations
NewbornDx™Coverage: 100%
CHKB
Congenital muscular dystrophy
early-onset muscle wasting, severe intellectual disability
NewbornDx™Coverage: 100%
CHD7
CHARGE syndrome
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%
CHD2
Epileptic encephalopathy
refractory seizures, cognitive slowing or regression
NewbornDx™Coverage: 94%
CHAT
Congenital myasthenic syndrome
muscle weakness, respiratory insufficiency, feeding difficulties, poor suck and cry, eyelid ptosis
NewbornDx™Coverage: 90%
CFTR
Cystic fibrosis
chronic sinopulmonary disease, pancreatic abnormalities, salt-loss syndromes
NewbornDx™Coverage: 94%
CERS3
Congenital ichthyosis
abnormal skin scaling, palmoplantar hyperlinearity, mild alopecia
NewbornDx™Coverage: 93%
CEP63
Seckel syndrome
microcephaly, cognitive impairment
NewbornDx™Coverage: 79%
CEP41
Joubert syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 91%
CEP290
Joubert syndromeLeber congenital amaurosisMeckel syndromeSenior-Loken syndrome
cerebellar and brain stem malformation, hypotonia, developmental delay, retinal degeneration
NewbornDx™Coverage: 85%
CEP152
Primary microcephaly
microcephaly, cognitive impairment
NewbornDx™Coverage: 98%
CEP135
Primary microcephaly
microcephaly, cognitive impairment
NewbornDx™Coverage: 79%
CENPJ
Primary microcephalySeckel syndrome
microcephaly, cognitive impairment
NewbornDx™Coverage: 100%
CDT1
Meier-Gorlin syndrome
primordial dwarfism, underdeveloped or missing kneecaps (patellae), microcephaly, delayed bone age, mild developmental delay, external genitalia abnormalities (males)
NewbornDx™Coverage: 95%
CDON
Holoprosencephaly
holoprosencephaly, agenesis of the corpus callosum, globabl development delay, proptosis, hypotelorism, cleft lip and palate
NewbornDx™Coverage: 100%
CDKN1C
Beckwith-Wiedemann syndrome
hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors, visceromegaly, adrenocortical cytomegaly, renal abnormalities, ear creases/pits
NewbornDx™Coverage: 75%
CDKL5
Epileptic encephalopathy
seizures, severe global developmental delay, progressive microcephaly, dysmorphic facial features
NewbornDx™Coverage: 95%
CDK6
Primary microcephaly
microcephaly, cognitive impairment
NewbornDx™Coverage: 100%
CDK5RAP2
Primary microcephaly
microcephaly, cognitive impairment
NewbornDx™Coverage: 99%
CDH3
Hypotrichosis with juvenile macular dystrophy
alopecia of the scalp, macular dystrophy
NewbornDx™Coverage: 100%
CDC6
Meier-Gorlin syndrome
primordial dwarfism, underdeveloped or missing kneecaps (patellae), microcephaly, delayed bone age, mild developmental delay, external genitalia abnormalites in males
NewbornDx™Coverage: 100%
CDAN1
Congenital dyserythropoietic anemia
moderate to severe macrocytic anemia, hepatomegaly, early jaundice, intrauterine growth retardation
NewbornDx™Coverage: 99%
CD81
Common variable immunodeficiency
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%
CD79B
Agammaglobulinemia
low or absent serum antibodies, low or absent circulating B-cells
NewbornDx™Coverage: 100%
CD79A
Agammaglobulinemia
low or absent serum antibodies, low or absent circulating B-cells
NewbornDx™Coverage: 100%
CD59
Hemolytic anemia
polyneuropathy, hypotonia, limb muscle weakness, hyporeflexia
NewbornDx™Coverage: 100%
CD3E
Severe combined immunodeficiency
mild immunodeficiency and severe combined immunodeficiency (SCID), recurrent infections, T cell-negative, B cell-positive, natural killer (NK) cell-positive
NewbornDx™Coverage: 100%
CD3D
Severe combined immunodeficiency
chronic diarrhea, recurrent respiratory infections, failure to thrive
NewbornDx™Coverage: 100%
CD320
Methylmalonic aciduria
asymptomatic, increased plasma and urine MMA, normal serum vitamin B12 levels
NewbornDx™Coverage: 100%
CD27
Lymphoproliferative syndrome
hypogammaglobulinemia, hemophagocytic lymphohistiocytosis
NewbornDx™Coverage: 100%
CD247
Immunodeficiency
erythroderma, protracted diarrhea, pulmonary abscesses, recurrent infections, low T-cell count
NewbornDx™Coverage: 100%
CD19
Common variable immunodeficiency
increased susceptibility to infection, hypogammaglobulinemia
NewbornDx™Coverage: 100%
CD151
Epidermolysis bullosaNephropathy with pretibial epidermolysis bullosa and deafness
nephritis, recurrent infected skin blisters of the legs, nail dystrophy, bilateral lacrimal duct stenosis, sensorineural hearing loss
NewbornDx™Coverage: 100%
CCT5
Hereditary sensory neuropathy, spastic paraplegia
neuropathy, limb spasticity, hyperreflexia
NewbornDx™Coverage: 100%
CCS
Congenital cataracts, hearing loss, and neurodegeneration
congenital cataracts, bilateral hearing loss, developmental delay, very low serum copper and ceruloplasmin
NewbornDx™Coverage: 96%
CCNO
Ciliary dyskinesia
respiratory distress, recurrent respiratory infections, recurrent ear infections
NewbornDx™Coverage: 100%
CCND2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
ventriculomegaly or hydrocephalus and megalencephaly, severely delayed psychomotor development, postaxial polydactyly of the hands and/or feet, macrocephaly
NewbornDx™Coverage: 100%
CCDC88C
Non-syndromic hydrocephalus
CSF circulation causing accumulation of ventricular cerebrospinal fluid, progressive ventricular dilatation
NewbornDx™Coverage: 100%
CCDC8
3-M syndrome
poor growth, low birth weight, triangular facies, frontal bossing, hip dysplasia, slender long bones, prominent heels, tall vertebral bodies
NewbornDx™Coverage: 100%
CCDC78