XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Postnatal microcephaly

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARNT215q25.199.99%gene with protein product606036Agenesis of corpus callosum; Anterior pituitary hypoplasia; Autosomal recessive inheritance; Cleft palate; Cryptorchidism; Deeply set eye; Delayed myelination; Diabetes insipidus; Gastroesophageal reflux; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hip dislocation; Hydronephrosis; Hypernatremia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Microcephaly; Neurogenic bladder; Nystagmus; Pituitary hypothyroidism; Postnatal microcephaly; Prominent forehead; Retrognathia; Seizures; Septo-optic dysplasia; Short stature; Spasticity; Strabismus; Vesicoureteral reflux; Visual impairment
CARS213q3499.98%gene with protein product612800Areflexia; Autosomal recessive inheritance; Cerebral atrophy; Chorea; Dystonia; Epileptic encephalopathy; Failure to thrive; Feeding difficulties; Global developmental delay; Hypoplasia of the corpus callosum; Microvesicular hepatic steatosis; Myoclonus; Opisthotonus; Postnatal microcephaly; Severe muscular hypotonia; Status epilepticus
CHMP1A16q24.3100%gene with protein product164010PRSM1, PCOLN3Absent speech; Astigmatism; Autosomal recessive inheritance; Cerebellar hypoplasia; Chorea; Congenital onset; Esotropia; Generalized hypotonia; Global developmental delay; Hypermetropia; Hyperreflexia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Muscular hypotonia of the trunk; Myopia; Pes cavus; Poor speech; Postnatal microcephaly; Spasticity; Talipes equinovarus; Talipes valgus
COG21q42.299.94%gene with protein product606974LDLCAutosomal recessive inheritance; Decreased liver function; Decreased serum ceruloplasmin; Diffuse cerebral atrophy; Elevated hepatic transaminases; Generalized tonic seizures; Global developmental delay; Hepatosplenomegaly; Hypocupremia; Hypoplasia of the corpus callosum; Infantile onset; Postnatal microcephaly; Seizures; Small pituitary gland; Spastic tetraplegia
COG21q42.299.94%gene with protein product606974LDLCAutosomal recessive inheritance; Decreased liver function; Decreased serum ceruloplasmin; Diffuse cerebral atrophy; Elevated hepatic transaminases; Generalized tonic seizures; Global developmental delay; Hepatosplenomegaly; Hypocupremia; Hypoplasia of the corpus callosum; Infantile onset; Postnatal microcephaly; Seizures; Small pituitary gland; Spastic tetraplegia
COL4A3BP5q13.3100%gene with protein product6046772-3 toe syndactyly; Anteverted nares; Autosomal dominant inheritance; Bilateral ptosis; Broad-based gait; Bruxism; Coarse hair; Cortical visual impairment; Curly hair; Drooling; Epicanthus; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Intellectual disability; Muscular hypotonia of the trunk; Myopathic facies; Oligohydramnios; Postnatal microcephaly; Short foot; Smooth philtrum; Stereotypy; Synophrys; Upslanted palpebral fissure; Wide intermamillary distance; Widely spaced teeth
COQ916q21100%gene with protein product612837C16orf49Autosomal recessive inheritance; Bradycardia; Cerebellar atrophy; Cerebral atrophy; Dystonia; Encephalopathy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Hyperreflexia; Increased serum lactate; Intrauterine growth retardation; Lactic acidosis; Left ventricular hypertrophy; Postnatal microcephaly; Respiratory insufficiency; Seizures; Weak cry
DHFR5q14.199.97%gene with protein product126060Absence seizures; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Eyelid myoclonus; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hepatomegaly; Jaundice; Megaloblastic anemia; Pallor; Pancytopenia; Poor head control; Postnatal microcephaly; Thrombocytopenia; Variable expressivity
DOLK9q34.11100%gene with protein product610746TMEM15Abnormal isoelectric focusing of serum transferrin; Abnormality of coagulation; Aplasia/Hypoplasia of the nipples; Autosomal recessive inheritance; Cerebral cortical atrophy; Cognitive impairment; Death in infancy; Dilated cardiomyopathy; Dry skin; Failure to thrive; Hepatomegaly; Hypoketotic hypoglycemia; Hypsarrhythmia; Ichthyosis; Lipoatrophy; Myalgia; Postnatal microcephaly; Seizures; Sparse and thin eyebrow; Sparse eyelashes; SplenomegalyPalmoplantar keratoderma plus congenital ichthyosis
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
DPM29q34.11100%gene with protein product603564Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Death in infancy; Elevated serum creatine phosphokinase; Feeding difficulties; Global developmental delay; High palate; Hypotelorism; Micrognathia; Myopathic facies; Optic atrophy; Postnatal microcephaly; Primitive reflex; Scoliosis; Seizures; Severe muscular hypotonia; Short nose; Strabismus; Thin upper lip vermilionRhabdomyolysis
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EFTUD217q21.31100%gene with protein product603892Abnormality of the antihelix; Absent tragus; Accessory oral frenulum; Anteverted nares; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Choanal atresia; Cleft palate; Conductive hearing impairment; Deep philtrum; Delayed speech and language development; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Feeding difficulties in infancy; Global developmental delay; Hypoplasia of the maxilla; Intellectual disability; Large earlobe; Low-set ears; Malar flattening; Mandibulofacial dysostosis; Microcephaly; Micrognathia; Microtia; Midface retrusion; Morphological abnormality of the middle ear; Overfolded helix; Postnatal microcephaly; Preauricular skin tag; Preaxial hand polydactyly; Progressive microcephaly; Respiratory distress; Short nose; Short stature; Slender finger; Telecanthus; Trigonocephaly; Underdeveloped tragus; Upslanted palpebral fissure
GPT216q11.2100%gene with protein product138210Absent speech; Autosomal recessive inheritance; Drooling; Dysarthria; Encephalopathy; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hyperreflexia; Intellectual disability; Postnatal microcephaly; Progressive
HSPD12q33.199.98%gene with protein product118190SPG13Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Choreoathetosis; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hyperreflexia in upper limbs; Impaired vibration sensation in the lower limbs; Intellectual disability, profound; Leukodystrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal onset; Nystagmus; Postnatal microcephaly; Progressive; Progressive spasticity; Seizures; Spastic gait; Spastic paraplegia; Strabismus; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
HTRA22p13.1100%gene with protein product606441PRSS253-Methylglutaconic aciduria; Apnea; Autosomal recessive inheritance; Bradycardia; Cataract; Cerebral atrophy; Death in infancy; Dystonia; Generalized hypotonia; Growth delay; Hypertonia; Hypoplasia of the corpus callosum; Increased CSF lactate; Increased serum lactate; Neutropenia; Poor suck; Postnatal microcephaly; Respiratory failure; Tremor; Ventriculomegaly
JAM311q25100%gene with protein product606871Autosomal recessive inheritance; Cataract; Congenital onset; Global developmental delay; Hepatomegaly; Hyperreflexia; Postnatal microcephaly; Seizures; Spasticity; Ventriculomegaly
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MED1711q21100%gene with protein product603810CRSP6Autosomal recessive inheritance; Clonus; Diffuse cerebral atrophy; Dysphagia; Failure to thrive; Feeding difficulties; Global developmental delay; Hypsarrhythmia; Postnatal microcephaly; Progressive; Progressive microcephaly; Seizures; Spasticity
NEXMIFXq13.3100%gene with protein product300524KIAA2022Absent speech; Autistic behavior; Cerebral cortical atrophy; Congenital onset; Esotropia; Failure to thrive; Gastroesophageal reflux; Global developmental delay; Growth delay; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Muscular hypotonia of the trunk; Neonatal hypotonia; Poor eye contact; Postnatal microcephaly; Round face; Seizures; Severe global developmental delay; Shawl scrotum; Short nose; Short philtrum; Spasticity; Stereotypy; Tented upper lip vermilion; Tetraparesis; Ventriculomegaly; X-linked recessive inheritance
PAFAH1B117p13.396.91%gene with protein product601545MDCR, MDSAbnormality of the cardiovascular system; Abnormality of the cerebral white matter; Abnormality of upper lip; Anteverted nares; Cerebellar hypoplasia; Cerebral cortical atrophy; Downslanted palpebral fissures; EEG abnormality; Epicanthus; Frontal bossing; Global developmental delay; Growth delay; Heterotopia; High forehead; Hypertelorism; Hypoplasia of the brainstem; Intellectual disability; Lissencephaly; Low-set ears; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow mouth; Pachygyria; Polyhydramnios; Postnatal microcephaly; Seizures; Short neck; Short nose; Spastic tetraparesis; Sporadic; Variable expressivity; Ventriculomegaly; Wide nose
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
PLEKHG219q13.299.99%gene with protein product611893Autosomal recessive inheritance; Diffuse white matter abnormalities; Infantile onset; Intellectual disability, severe; Leukodystrophy; Postnatal microcephaly
PLPBP8p11.23100%gene with protein productformer name = PROSC604436PROSCAbnormality of metabolism/homeostasis; Abnormality of movement; Apnea; Autosomal recessive inheritance; Clonus; EEG abnormality; Global developmental delay; Hypertonia; Intellectual disability; Muscular hypotonia; Myoclonus; Neurological speech impairment; Poor speech; Postnatal microcephaly; Respiratory insufficiency; Status epilepticus; Ventriculomegaly
PPT11p34.2100%gene with protein product600722PPTAbnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Blindness; Cerebral atrophy; Decreased light- and dark-adapted electroretinogram amplitude; Depressivity; EEG abnormality; Flexion contracture; Generalized hypotonia; Global developmental delay; Hallucinations; Increased neuronal autofluorescent lipopigment; Intellectual disability; Irritability; Loss of speech; Macular degeneration; Myoclonus; Onset; Optic atrophy; Postnatal microcephaly; Progressive microcephaly; Progressive visual loss; Psychomotor deterioration; Seizures; Sleep disturbance; Spasticity; Undetectable electroretinogram
PSAT19q21.299.93%gene with protein product610936Abnormality of the philtrum; Abnormality of the pinna; Absent septum pellucidum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Broad foot; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Congenital onset; Dandy-Walker malformation; Decreased fetal movement; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Feeding difficulties in infancy; Global developmental delay; High palate; Hypertelorism; Hypertonia; Hypoglycinemia; Hypogonadism; Hyposerinemia; Ichthyosis; Infantile onset; Intrauterine growth retardation; Lack of skin elasticity; Large hands; Lissencephaly; Low-set ears; Macrogyria; Macrotia; Microcephaly; Micrognathia; Muscle cramps; Muscular dystrophy; Opisthotonus; Pachygyria; Polyhydramnios; Polymicrogyria; Postnatal microcephaly; Proptosis; Rocker bottom foot; Scoliosis; Seizures; Short neck; Skeletal muscle atrophy; Sloping forehead; Thick vermilion border; TrismusPalmoplantar keratoderma plus congenital ichthyosis
RAB1810p12.199.53%gene with protein product602207Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Ankle clonus; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Blepharophimosis; Brachycephaly; Cataract; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased testicular size; Delayed puberty; Downturned corners of mouth; Flexion contracture; Generalized hirsutism; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow palate; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Postnatal growth retardation; Postnatal microcephaly; Scoliosis; Scrotal hypoplasia; Seizures; Shallow anterior chamber; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Ventriculomegaly; Wide nasal bridge
RAB3GAP21q4198.48%gene with protein product609275Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Asymmetry of the ears; Autosomal recessive inheritance; Brachycephaly; Broad fingertip; Broad nasal tip; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Congestive heart failure; Cortical visual impairment; Cryptorchidism; Delayed puberty; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Flexion contracture; Furrowed tongue; Generalized hirsutism; Global brain atrophy; Global developmental delay; High palate; Hyperlordosis; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Malar flattening; Metatarsus adductus; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Overlapping toe; Pachygyria; Pectus carinatum; Pectus excavatum; Polymicrogyria; Posteriorly rotated ears; Postnatal growth retardation; Postnatal microcephaly; Prematurely aged appearance; Prominent antitragus; Prominent nasal bridge; Prominent nipples; Recurrent respiratory infections; Scoliosis; Scrotal hypoplasia; Severe global developmental delay; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short philtrum; Short stature; Short toe; Slender ulna; Spasticity; Talipes equinovarus; Talipes valgus; Tracheomalacia; Ulnar deviation of finger; Undetectable visual evoked potentials; Wide nasal bridge
SCN1A2q24.3100%gene with protein product182389SCN1, FEB3Abnormality of brainstem morphology; Abnormality of movement; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Blindness; Cerebral atrophy; Childhood onset; Cortical visual impairment; Cutaneous photosensitivity; EEG abnormality; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Focal clonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hemiclonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Hyperactivity; Incomplete penetrance; Infantile onset; Intellectual disability; Mental deterioration; Migraine with aura; Motor delay; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Nystagmus; Obtundation status; Personality disorder; Photophobia; Postnatal microcephaly; Pschomotor retardation; Seizures; Status epilepticus; Tremor; Variable expressivity
SLC12A520q13.12100%gene with protein product606726Abnormal pyramidal signs; Autosomal recessive inheritance; Cerebral atrophy; Delayed CNS myelination; Excessive salivation; Generalized tonic-clonic seizures with focal onset; Global developmental delay; Hemiclonic seizures; Inability to walk; Infantile onset; Intellectual disability; Postnatal microcephaly; Status epilepticus
SLC18A210q25.3100%gene with protein product193001VMAT2Abnormality of eye movement; Abnormality of the foot; Abnormality of the vasculature; Cognitive impairment; Dysarthria; Dysdiadochokinesis; Fatigue; Generalized hypotonia; Global developmental delay; Hyperhidrosis; Hypomimic face; Inappropriate crying; Limb dystonia; Muscular hypotonia of the trunk; Nasal speech; Oculogyric crisis; Orofacial dyskinesia; Parkinsonism; Poor head control; Postnatal microcephaly; Ptosis; Shuffling gait; Sleep disturbance; Spastic tetraparesis; Stridor; Tremor
TAF28q24.1299.99%gene with protein product604912TAF2BAutosomal recessive inheritance; Babinski sign; Delayed myelination; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Poor speech; Postnatal microcephaly; Spasticity
TBC1D2020p13100%gene with protein product611663C20orf140Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Flexion contracture; Frontoparietal polymicrogyria; Generalized hirsutism; Glaucoma; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Narrow mouth; Optic atrophy; Pachygyria; Postnatal microcephaly; Ptosis; Scoliosis; Scrotal hypoplasia; Severe postnatal growth retardation; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Wide nasal bridge
TBCD17q25.3100%gene with protein product604649Arthrogryposis multiplex congenita; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; CNS hypomyelination; Constipation; Developmental regression; Diffuse cerebral atrophy; Encephalopathy; Facial hypotonia; Feeding difficulties; Gliosis; Global developmental delay; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Micrognathia; Muscle weakness; Neuronal loss in central nervous system; Optic atrophy; Postnatal microcephaly; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Sparse eyebrow; Spastic tetraplegia; Tongue fasciculations; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Widely spaced teeth
TMEM1654q12100%gene with protein product614726Abnormality of the cerebral white matter; Autosomal recessive inheritance; Diaphyseal dysplasia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Epiphyseal dysplasia; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Joint laxity; Kyphoscoliosis; Low-set ears; Metaphyseal dysplasia; Muscle weakness; Osteoporosis; Phenotypic variability; Posteriorly rotated ears; Postnatal microcephaly; Short stature; Thrombocytopenia
TRAPPC98q24.3100%gene with protein product611966Abnormality of the cerebellar vermis; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congenital hypothyroidism; Congenital stationary night blindness; Downturned corners of mouth; Epicanthus; Generalized myoclonic seizures; Global developmental delay; Horizontal eyebrow; Hyperactivity; Hypertelorism; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intellectual disability, severe; Large fleshy ears; Malignant hyperthermia; Microcephaly; Multifocal cerebral white matter abnormalities; Muscular hypotonia; Narrow forehead; Obesity; Postnatal microcephaly; Round face; Short neck; Short philtrum; Smooth philtrum; Synophrys; Tapered finger; Thin upper lip vermilion; Underdeveloped supraorbital ridges; Wide nasal bridgeObesity
UBA53q22.199.42%gene with protein product610552UBE1DC1Absent speech; Athetosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Delayed myelination; Dysarthria; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hypoplasia of the corpus callosum; Intellectual disability, severe; Irritability; Limb ataxia; Mask-like facies; Nystagmus; Poor eye contact; Postnatal microcephaly; Progressive; Seizures; Short stature; Spasticity
UBE3A15q11.2100%gene with protein product601623EPVE6AP, HPVE6AAbsent speech; Apraxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Broad-based gait; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clumsiness; Constipation; Deeply set eye; Delayed speech and language development; Drooling; EEG abnormality; Exotropia; Fair hair; Feeding difficulties in infancy; Flat occiput; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypopigmentation of the skin; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb tremor; Macroglossia; Mandibular prognathia; Motor delay; Muscular hypotonia; Myopia; Nystagmus; Obesity; Obsessive-compulsive behavior; Paroxysmal bursts of laughter; Postnatal microcephaly; Progressive gait ataxia; Protruding tongue; Scoliosis; Seizures; Sleep-wake cycle disturbance; Sporadic; Strabismus; Wide mouth; Widely spaced teeth
VPS1111q23.3100%gene with protein product608549Absent speech; Autosomal recessive inheritance; Central hypotonia; Cerebellar atrophy; Cerebral hypomyelination; Constipation; Cortical visual impairment; Delayed myelination; Developmental stagnation; Dysautonomia; Flexion contracture; Focal seizures with impairment of consciousness or awareness; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Muscular hypotonia of the trunk; Neurogenic bladder; Optic atrophy; Poor speech; Postnatal microcephaly; Reduced visual acuity; Severe global developmental delay; Spasticity; Temperature instability; Ventriculomegaly
WDR7315q25.2100%gene with protein product616144Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Cognitive impairment; Diffuse mesangial sclerosis; Dysarthria; EEG abnormality; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the ear cartilage; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephropathy; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Premature birth; Progressive extrapyramidal movement disorder; Prominent nose; Proteinuria; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth
ZNF59215q25.2100%gene with protein product613624SCAR5Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Diffuse mesangial sclerosis; Dysarthria; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Progressive extrapyramidal movement disorder; Prominent nose; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth


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.


  SUGGESTED CUSTOM SLICES  

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-AlbinismAlbinism
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-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome