XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Posterior embryotoxon

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARVCF22q11.21100%gene with protein product602269Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
COMT22q11.21100%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 116790Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
DGCR222q11.21100%gene with protein product600594Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DGCR622q11.21100%gene with protein product601279Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DGCR822q11.21100%gene with protein product609030C22orf12Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
ESS222q11.21100%gene with protein product601755DGCR13, DGCR14Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
FOXC16p25.3100%gene with protein product601090FKHL7, IRID1Abnormal anterior chamber morphology; Abnormal iris vasculature; Abnormality of cardiovascular system morphology; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Cataract; Central opacification of the cornea; Cerebellar vermis hypoplasia; Concave nasal ridge; Congenital glaucoma; Ectopia pupillae; Everted lower lip vermilion; Glaucoma; Hearing impairment; Heterogeneous; Hypertelorism; Hypodontia; Hypoplasia of the iris; Hypoplastic iris stroma; Malar flattening; Microdontia; Midface retrusion; Nystagmus; Patent ductus arteriosus; Peters anomaly; Posterior embryotoxon; Proptosis; Rieger anomaly; Sensorineural hearing impairment; Subcapsular cataract; Thinning of Descemet membrane; Visual lossCongenital Kidney and Urinary Tract (CKUT) Anomalies
FOXC16p25.3100%gene with protein product601090FKHL7, IRID1Abnormal anterior chamber morphology; Abnormal iris vasculature; Abnormality of cardiovascular system morphology; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Cataract; Central opacification of the cornea; Cerebellar vermis hypoplasia; Concave nasal ridge; Congenital glaucoma; Ectopia pupillae; Everted lower lip vermilion; Glaucoma; Hearing impairment; Heterogeneous; Hypertelorism; Hypodontia; Hypoplasia of the iris; Hypoplastic iris stroma; Malar flattening; Microdontia; Midface retrusion; Nystagmus; Patent ductus arteriosus; Peters anomaly; Posterior embryotoxon; Proptosis; Rieger anomaly; Sensorineural hearing impairment; Subcapsular cataract; Thinning of Descemet membrane; Visual lossCongenital Kidney and Urinary Tract (CKUT) Anomalies
FOXC16p25.3100%gene with protein product601090FKHL7, IRID1Abnormal anterior chamber morphology; Abnormal iris vasculature; Abnormality of cardiovascular system morphology; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Cataract; Central opacification of the cornea; Cerebellar vermis hypoplasia; Concave nasal ridge; Congenital glaucoma; Ectopia pupillae; Everted lower lip vermilion; Glaucoma; Hearing impairment; Heterogeneous; Hypertelorism; Hypodontia; Hypoplasia of the iris; Hypoplastic iris stroma; Malar flattening; Microdontia; Midface retrusion; Nystagmus; Patent ductus arteriosus; Peters anomaly; Posterior embryotoxon; Proptosis; Rieger anomaly; Sensorineural hearing impairment; Subcapsular cataract; Thinning of Descemet membrane; Visual lossCongenital Kidney and Urinary Tract (CKUT) Anomalies
GP1BB22q11.2199.89%gene with protein product138720Abnormal aortic arch morphology; Abnormal bleeding; Abnormal pulmonary valve morphology; Abnormality of abdomen morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Epistaxis; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Increased mean platelet volume; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Menorrhagia; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prolonged bleeding time; Prominent nasal bridge; Ptosis; Purpura; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Thrombocytopenia; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
HIRA22q11.2199.99%gene with protein product600237TUPLE1Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
JAG120p12.2100%gene with protein product601920AGS, JAGL1Abnormal nasal morphology; Abnormality of the ribs; Areflexia; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Band keratopathy; Brachydactyly; Broad forehead; Butterfly vertebral arch; Cataract; Chorioretinal atrophy; Cirrhosis; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Dolichocephaly; Elevated hepatic transaminases; Exocrine pancreatic insufficiency; Failure to thrive; Hemivertebrae; Hepatocellular carcinoma; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hypoplasia of the ulna; Incomplete penetrance; Infantile onset; Intrauterine growth retardation; Long nose; Macrotia; Microcornea; Multiple small medullary renal cysts; Myopia; Papillary thyroid carcinoma; Peripheral pulmonary artery stenosis; Pigmentary retinopathy; Posterior embryotoxon; Preauricular pit; Prolonged neonatal jaundice; Proptosis; Reduced number of intrahepatic bile ducts; Renal dysplasia; Renal hypoplasia; Renal tubular acidosis; Short distal phalanx of finger; Specific learning disability; Strabismus; Stroke; Tetralogy of Fallot; Thin vermilion border; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral refluxVACTERL Association
JMJD1C10q21.399.98%gene with protein product604503TRIP8Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
NOTCH21p1299.71%gene with protein product600275Abnormal cardiac septum morphology; Abnormality of the fingernails; Absent frontal sinuses; Anteverted nares; Arnold-Chiari malformation; Arthralgia; Atrial septal defect; Autosomal dominant inheritance; Basilar impression; Biconcave vertebral bodies; Bone pain; Brachydactyly; Broad forehead; Cervical instability; Cholestasis; Cholestatic liver disease; Coarse facial features; Conductive hearing impairment; Crowded carpal bones; Cryptorchidism; Decreased skull ossification; Dental malocclusion; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Elongated sella turcica; Epicanthus; Failure to thrive; Foot acroosteolysis; Full cheeks; Generalized hirsutism; Genu valgum; Hearing impairment; Hematuria; High palate; Hirsutism; Hydrocephalus; Hypertelorism; Hypertension; Hypoplastic 5th lumbar vertebrae; Hypospadias; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Large earlobe; Long eyelashes; Long nose; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Narrow mouth; Open bite; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Partial absence of toe; Patent ductus arteriosus; Pathologic fracture; Periodontitis; Peripheral pulmonary artery stenosis; Phenotypic variability; Platybasia; Pointed chin; Posterior embryotoxon; Premature loss of teeth; Prominent occiput; Proteinuria; Pulmonic stenosis; Recurrent fractures; Renal cyst; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Scoliosis; Short distal phalanx of finger; Short nail; Short neck; Short stature; Short toe; Skeletal dysplasia; Synophrys; Tall lumbar vertebral bodies; Telecanthus; Tetralogy of Fallot; Thick eyebrow; Thin vermilion border; Triangular face; Umbilical hernia; Vertebral compression fractures; Wide nose; Wormian bonesVACTERL Association
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
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
PITX24q25100%gene with protein product601542IRID2, IHG2, RIEG, RIEG1, RGSAbnormal anterior chamber morphology; Abnormal cornea morphology; Abnormal facial shape; Abnormality of cardiovascular system morphology; Abnormality of the abdominal wall; Abnormality of the conjunctiva; Abnormality of the dentition; Abnormally prominent line of Schwalbe; Anal atresia; Anal stenosis; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Autosomal dominant inheritance; Autosomal recessive inheritance; Central opacification of the cornea; Congenital glaucoma; Corneal opacity; Everted lower lip vermilion; Glaucoma; Growth hormone deficiency; Hearing impairment; Heterogeneous; Hypodontia; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplastic iris stroma; Hypospadias; Iris hypopigmentation; Megalocornea; Microcornea; Midface retrusion; Peters anomaly; Polycoria; Posterior embryotoxon; Prominent supraorbital ridges; Rieger anomaly; Short philtrum; Strabismus; Subcapsular cataract; Thin upper lip vermilion; Thinning of Descemet membrane; Variable expressivity; Wide nasal bridge
PITX24q25100%gene with protein product601542IRID2, IHG2, RIEG, RIEG1, RGSAbnormal anterior chamber morphology; Abnormal cornea morphology; Abnormal facial shape; Abnormality of cardiovascular system morphology; Abnormality of the abdominal wall; Abnormality of the conjunctiva; Abnormality of the dentition; Abnormally prominent line of Schwalbe; Anal atresia; Anal stenosis; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Autosomal dominant inheritance; Autosomal recessive inheritance; Central opacification of the cornea; Congenital glaucoma; Corneal opacity; Everted lower lip vermilion; Glaucoma; Growth hormone deficiency; Hearing impairment; Heterogeneous; Hypodontia; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplastic iris stroma; Hypospadias; Iris hypopigmentation; Megalocornea; Microcornea; Midface retrusion; Peters anomaly; Polycoria; Posterior embryotoxon; Prominent supraorbital ridges; Rieger anomaly; Short philtrum; Strabismus; Subcapsular cataract; Thin upper lip vermilion; Thinning of Descemet membrane; Variable expressivity; Wide nasal bridge
RREB16p24.3100%gene with protein product602209Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
SEC24C10q22.2100%gene with protein product607185Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
UFD122q11.21100%gene with protein product601754UFD1LAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge


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