XomeDxSlice Tool

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

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Phenotypes
Elevated levels of phytanic acid

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX101p36.32100%gene with protein product602859Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar atrophy; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetric saccades; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Impaired smooth pursuit; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Slow progression; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX11B1q21.1100%gene with protein product603867Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dry skin; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypospadias; Intellectual disability, mild; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Migraine; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive hearing impairment; 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 stature; Skeletal dysplasia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Urinary incontinence; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1217q12100%gene with protein product601758Abnormal bleeding; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital onset; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Depressed nasal ridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypocholesterolemia; Hyporeflexia; Hypospadias; Intellectual disability; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Malar flattening; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Osteoporosis; Polycystic kidney dysplasia; Polymicrogyria; Polyneuropathy; 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 stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Steatorrhea; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX132p15100%gene with protein product601789Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; CNS hypomyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Jaundice; Large face; Lissencephaly; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Multiple renal cysts; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Respiratory tract infection; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Visual loss; Wide anterior fontanel; Wide nasal bridge
PEX141p36.22100%gene with protein product601791Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the eye; Abnormality of the liver; Abnormality of the nasal bridge; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Large fontanelles; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; 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 stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX191q23.2100%gene with protein product600279PXFAbnormal chorioretinal morphology; Abnormal cortical bone morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the hairline; Abnormality of the liver; Abnormality of the male genitalia; Abnormality of the palate; Anteverted nares; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Cerebral atrophy; Cholelithiasis; Clitoral hypertrophy; CNS demyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cranial asymmetry; Cryptorchidism; Death in infancy; Decreased body weight; Decreased fetal movement; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; Double outlet right ventricle; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydronephrosis; Hyperbilirubinemia; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Periorbital fullness; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal tubular dysfunction; Respiratory insufficiency; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; 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 palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; 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 palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX2622q11.21100%gene with protein product608666Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Talipes equinovarus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
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
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PHYH10p1399.97%gene with protein product602026Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cataract; Congestive heart failure; Developmental regression; Dry skin; Elevated levels of phytanic acid; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability, severe; Limb muscle weakness; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Retinal degeneration; Retinopathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Splenomegaly; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis


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