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Death in childhood

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABAT16p13.2100%gene with protein product137150Agenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Death in childhood; Downslanted palpebral fissures; Global developmental delay; High-pitched cry; Hyperreflexia; Lethargy; Leukodystrophy; Posterior fossa cyst; Retrognathia; Seizures; Severe muscular hypotonia; Tall stature
ABCB112q31.1100%gene with protein product603201BSEP, PFIC2Autosomal recessive inheritance; Cholelithiasis; Cirrhosis; Conjugated hyperbilirubinemia; Death in childhood; Diarrhea; Elevated alkaline phosphatase; Failure to thrive; Fat malabsorption; Hepatocellular carcinoma; Hepatomegaly; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Jaundice; Pruritus; Short stature; Splenomegaly
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GNPTAB12q23.299.95%gene with protein product607840GNPTAAbnormality of nervous system morphology; Abnormality of the rib cage; Abnormality of the thorax; Anteverted nares; Aortic regurgitation; Atlantoaxial dislocation; Autosomal recessive inheritance; Beaking of vertebral bodies T12-L3; Broad ribs; Bullet-shaped phalanges of the hand; Cardiomegaly; Carpal bone hypoplasia; Cavernous hemangioma; Coarse facial features; Congestive heart failure; Constrictive median neuropathy; Corneal erosion; Craniosynostosis; Death in childhood; Deficiency of N-acetylglucosamine-1-phosphotransferase; Depressed nasal bridge; Diastasis recti; Dysostosis multiplex; Epicanthus; Failure to thrive; Flared iliac wings; Flat acetabular roof; Generalized hirsutism; Heart murmur; Hepatomegaly; Hernia; High forehead; Hip dislocation; Hoarse voice; Hyperopic astigmatism; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic scapulae; Increased serum beta-hexosaminidase; Increased serum iduronate sulfatase activity; Inguinal hernia; Intellectual disability; Irregular carpal bones; J-shaped sella turcica; Lack of skin elasticity; Large sella turcica; Long philtrum; Lower thoracic interpediculate narrowness; Macroglossia; Mandibular prognathia; Megalocornea; Metaphyseal widening; Mucopolysacchariduria; Myelopathy; Narrow forehead; Neonatal hypotonia; Opacification of the corneal stroma; Osteopenia; Ovoid vertebral bodies; Palpebral edema; Pathologic fracture; Progressive alveolar ridge hypertropy; Protuberant abdomen; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Retinal degeneration; Scoliosis; Severe global developmental delay; Severe postnatal growth retardation; Shallow acetabular fossae; Short long bone; Short ribs; Short stature; Soft tissue swelling of interphalangeal joints; Sparse and thin eyebrow; Specific learning disability; Splenomegaly; Split hand; Talipes equinovarus; Thickened calvaria; Thickened skin; Thin skin; Thoracolumbar kyphoscoliosis; Umbilical hernia; Varus deformity of humeral neck; Wide intermamillary distance
HMGCL1p36.1199.96%gene with protein product6138983-Methylglutaric aciduria; Autosomal recessive inheritance; Coma; Death in childhood; Decreased plasma carnitine; Excessive daytime somnolence; Fever; Glutaric aciduria; Hepatomegaly; Hyperammonemia; Hypoglycemia; Increased level of 3-hydroxy-3-methylglutaric acid in urine; Increased level of hippuric acid in urine; Metabolic acidosis
NFIX19p13.1393.01%gene with protein product164005Accelerated skeletal maturation; Advanced eruption of teeth; Agenesis of corpus callosum; Anteverted nares; Anxiety; Astigmatism; Atlantoaxial dislocation; Atrial septal defect; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Bruising susceptibility; Bullet-shaped middle phalanges of the hand; Cerebral atrophy; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Coxa valga; Cutis marmorata; Death in childhood; Decreased body weight; Delayed speech and language development; Depressed nasal bridge; Distal widening of metacarpals; Downslanted palpebral fissures; Eclabion; Everted lower lip vermilion; Failure to thrive; Frontal bossing; Generalized hirsutism; Generalized hypotonia; Gingival overgrowth; Glossoptosis; Hearing impairment; High forehead; Hypermetropia; Hypertelorism; Hypoplasia of the odontoid process; Increased susceptibility to fractures; Intellectual disability; Irregular dentition; Joint hyperflexibility; Large sternal ossification centers; Laryngomalacia; Long face; Long fingers; Low-set ears; Macrocephaly; Macrogyria; Malar flattening; Mandibular prognathia; Midface retrusion; Motor delay; Narrow face; Narrow mouth; Nystagmus; Obstructive sleep apnea; Omphalocele; Open mouth; Overfolded helix; Overgrowth; Patent ductus arteriosus; Pectus excavatum; Prominence of the premaxilla; Prominent forehead; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Reduced bone mineral density; Retrognathia; Scoliosis; Shallow orbits; Short distal phalanx of finger; Short mandibular rami; Short nose; Short philtrum; Short sternum; Slender long bone; Sporadic; Strabismus; Synophrys; Tall stature; Thick eyebrow; Thin skin; Umbilical hernia; Ventriculomegaly
OGDH7p13100%gene with protein product613022Abnormal salivary gland morphology; Abnormal urine alpha-ketoglutarate concentration; Abnormality of Krebs cycle metabolism; Abnormality of movement; Ataxia; Autosomal recessive inheritance; Congenital lactic acidosis; Death in childhood; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertonia; Increased serum lactate; Metabolic acidosis; Short stature; Skeletal muscle atrophy
PEX512p13.31100%gene with protein product600414PXR1Abnormal chorioretinal morphology; Abnormal facial shape; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the mitochondrion; Abnormality of the palate; Adrenal insufficiency; Aminoaciduria; Anteverted nares; Apnea; Areflexia; Asthma; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad-based gait; Brushfield spots; Camptodactyly; Cataract; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Coxa vara; Cryptorchidism; Cubitus valgus; Death in childhood; Death in infancy; Decreased body weight; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; Esotropia; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Frontal bossing; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplasia of the thymus; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Joint contracture of the hand; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Metaphyseal cupping; Metaphyseal irregularity; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Peripheral neuropathy; Pes cavus; Pigmentary retinopathy; Polar cataract; Polycystic kidney dysplasia; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short femoral neck; Short stature; Single transverse palmar crease; Sinus tachycardia; Skeletal dysplasia; Spasticity; Stippled chondral calcification; Strabismus; Talipes equinovarus; Thoracic scoliosis; Turricephaly; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Vertical nystagmus; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PSAP10q22.199.99%gene with protein product176801SAP1, GLBAAbnormality of eye movement; Abnormality of glycosphingolipid metabolism; Abnormality of the periventricular white matter; Anemia; Autosomal recessive inheritance; Babinski sign; Central apnea; Cerebral dysmyelination; CNS demyelination; Congenital onset; Death in childhood; Death in infancy; Decreased nerve conduction velocity; Developmental regression; Dysarthria; Dysphagia; Dystonia; Erlenmeyer flask deformity of the femurs; Fasciculations; Feeding difficulties; Gait ataxia; Generalized clonic seizures; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; Hyperkinesis; Hyperreflexia; Hypertonia; Hypoplasia of the corpus callosum; Hyporeflexia; Increased cerebral lipofuscin; Increased CSF protein; Infantile onset; Loss of speech; Mental deterioration; Muscle weakness; Muscular hypotonia; Myoclonus; Neuronal loss in central nervous system; Osteopenia; Peripheral demyelination; Polyneuropathy; Recurrent respiratory infections; Respiratory failure; Respiratory insufficiency; Seizures; Spastic tetraparesis; Splenomegaly; Thrombocytopenia; Urinary incontinence; Variable expressivity
RAB27A15q21.399.98%gene with protein product603868Abnormality of the cerebellum; Accumulation of melanosomes in melanocytes; Autosomal recessive inheritance; Death in childhood; Hemophagocytosis; Hepatomegaly; Hyperlipidemia; Hypopigmentation of hair; Hypopigmentation of the skin; Immunodeficiency; Infantile onset; Jaundice; Lymphadenopathy; Melanin pigment aggregation in hair shafts; Neutropenia; Pancytopenia; Partial albinism; Premature graying of hair; Recurrent bacterial infections; Reduced delayed hypersensitivity; Seizures; Silver-gray hair; Spasticity; SplenomegalyAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
RARS26q1599.36%gene with protein product611524RARSLAbsent speech; Apnea; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Death in childhood; Deeply set eye; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperreflexia; Increased CSF lactate; Increased serum lactate; Lower limb spasticity; Narrow forehead; Narrow palate; Poor head control; Poor suck; Progressive; Progressive microcephaly; Prominent nasal bridge; Seizures; Upper limb spasticity; Variable expressivity
RNASEH2A19p13.13100%gene with protein product606034Arrhinencephaly; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral calcification; Convex nasal ridge; CSF lymphocytic pleiocytosis; Death in childhood; Dystonia; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties; Hemiplegia/hemiparesis; Hepatomegaly; Hepatosplenomegaly; Hydrocephalus; Infantile onset; Intellectual disability, profound; Intrauterine growth retardation; Leukodystrophy; Low-set ears; Pancytopenia; Porencephalic cyst; Progressive microcephaly; Severe global developmental delay; Spasticity; Splenomegaly; Thrombocytopenia; VentriculomegalyAutoimmune Disorders
RNASEH2C11q13.1100%gene with protein product610330Arrhinencephaly; Autosomal recessive inheritance; Cerebral calcification; CSF lymphocytic pleiocytosis; Death in childhood; Delayed myelination; Dystonia; Elevated hepatic transaminases; Encephalopathy; Eyelid coloboma; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatosplenomegaly; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, profound; Nystagmus; Porencephalic cyst; Progressive; Progressive microcephaly; Severe global developmental delay; Spasticity; ThrombocytopeniaAutoimmune Disorders
SLC17A56q1399.99%gene with protein product604322SIASDAbnormality of metabolism/homeostasis; Abnormality of the foot; Abnormality of the thorax; Anteverted nares; Ascites; Ataxia; Athetosis; Autosomal recessive inheritance; Cardiomegaly; Cerebral atrophy; Coarse facial features; Congestive heart failure; Conjugated hyperbilirubinemia; Death in childhood; Delayed speech and language development; Dysarthria; Epicanthus; Exotropia; Failure to thrive; Fair hair; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Growth delay; Hepatomegaly; High palate; Hydrocephalus; Hydrops fetalis; Hypopigmentation of the skin; Inability to walk; Intellectual disability; J-shaped sella turcica; Metaphyseal irregularity; Nephrotic syndrome; Nystagmus; Osteopenia; Premature birth; Ptosis; Seizures; Spasticity; Splenomegaly; Thickened calvaria; Vacuolated lymphocytes
SLC25A2211p15.5100%gene with protein product609302Abnormality of visual evoked potentials; Autosomal recessive inheritance; Cerebral atrophy; Death in childhood; Delayed myelination; Dysphagia; Epileptic encephalopathy; Eyelid myoclonias; Focal tonic seizures; Generalized myoclonic seizures; Global developmental delay; Hyperreflexia; Infantile spasms; Lethargy; Muscular hypotonia; Myoclonus; Neonatal hypotonia; Poor suck; Progressive microcephaly; Recurrent respiratory infections; Spasticity
STT3B3p2399.96%gene with protein product608605Abnormal glycosylation; Autosomal recessive inheritance; Cerebellar atrophy; Congenital onset; Cryptorchidism; Death in childhood; Decreased liver function; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Intellectual disability; Intrauterine growth retardation; Microcephaly; Micropenis; Optic atrophy; Respiratory distress; Scrotal hypoplasia; Seizures; Thrombocytopenia
TSFM12q14.193.89%gene with protein product604723Ataxia; Autosomal recessive inheritance; Cognitive impairment; Concentric hypertrophic cardiomyopathy; Death in childhood; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Decreased fetal movement; Dystonia; Elevated serum creatine phosphokinase; Encephalopathy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Increased serum lactate; Intrauterine growth retardation; Lactic acidosis; Muscle weakness; Neonatal hypotonia; Optic atrophy; Optic neuropathy; Patent ductus arteriosus; Patent foramen ovale; Phenotypic variability; Respiratory failure; Rhabdomyolysis; Seizures; Tremor; Ventriculomegaly; Visual impairment
UBR115q15.299.61%gene with protein product605981Abnormal hair pattern; Abnormality of the nail; Abnormality of the vagina; Absent lacrimal punctum; Agenesis of permanent teeth; Alopecia; Anal atresia; Anasarca; Anemia; Anteriorly placed anus; Aplasia cutis congenita of scalp; Atrial septal defect; Autosomal recessive inheritance; Cafe-au-lait spot; Calvarial skull defect; Clinodactyly of the 5th finger; Clitoral hypertrophy; Colonic diverticula; Convex nasal ridge; Cryptorchidism; Death in childhood; Delayed eruption of teeth; Delayed skeletal maturation; Diabetes mellitus; Exocrine pancreatic insufficiency; Failure to thrive; Fair hair; Frontal upsweep of hair; Generalized hypotonia; Hydronephrosis; Hypocalcemia; Hypoplasia of the primary teeth; Hypoplastic nipples; Hypoproteinemia; Hypospadias; Hypothyroidism; Increased circulating very-low-density lipoprotein levels; Intellectual disability; Intrauterine growth retardation; Joint laxity; Lacrimation abnormality; Malabsorption; Microcephaly; Microdontia; Micropenis; Midline skin dimples over anterior/posterior fontanelles; Oligodontia; Rectovaginal fistula; Sensorineural hearing impairment; Septate vagina; Short nose; Short stature; Single transverse palmar crease; Situs inversus totalis; Small for gestational age; Sparse scalp hair; Strabismus; Underdeveloped nasal alae; Urethrovaginal fistula; Ventricular septal defectDisorders of Sex Development; Heterotaxy

The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome