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Phenotypes
Optic nerve hypoplasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALDH1A315q26.3100%gene with protein product600463ALDH6Autosomal recessive inheritance; Microphthalmia; Optic nerve hypoplasia
ANKRD1116q24.399.94%gene with protein product611192Anteverted nares; Autism; Autosomal dominant inheritance; Cervical ribs; Clinodactyly; Colpocephaly; Cryptorchidism; Delayed skeletal maturation; Frontal bossing; Global developmental delay; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, moderate; Long palpebral fissure; Long philtrum; Low anterior hairline; Low posterior hairline; Macrodontia; Macrotia; Microcephaly; Micrognathia; Oligodontia; Optic nerve hypoplasia; Periventricular gray matter heterotopia; Pointed chin; Protruding ear; Radial deviation of finger; Rib fusion; Round face; Seizures; Short stature; Single transverse palmar crease; Smooth philtrum; Syndactyly; Telecanthus; Thick eyebrow; Thoracic kyphosis; Triangular face; Underdeveloped nasal alae; Ventriculomegaly; Vertebral arch anomaly; Vertebral fusion; Wide mouth; Widely-spaced maxillary central incisors
B3GALNT21q42.399.76%gene with protein product610194Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Gait disturbance; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the pons; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Specific learning disability; Strabismus; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
ELP411p1399.98%gene with protein product606985C11orf19Aniridia; Autosomal dominant inheritance; Cataract; Glaucoma; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Nystagmus; Opacification of the corneal stroma; Optic nerve hypoplasia
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
GLI22q14.299.99%gene with protein product165230Abnormal cortical gyration; Abnormal prolactin level; Abnormality of secondary sexual hair; Agenesis of incisor; Amenorrhea; Anophthalmia; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Bilateral cleft lip and palate; Cryptorchidism; Decreased circulating ACTH level; Decreased testicular size; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Global developmental delay; Growth hormone deficiency; Holoprosencephaly; Hydrocephalus; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypopituitarism; Hypoplasia of the maxilla; Hypoplasia of the premaxilla; Hypotelorism; Hypotension; Incomplete penetrance; Infertility; Macrotia; Malar flattening; Microcephaly; Micropenis; Microphthalmia; Midface retrusion; Optic nerve hypoplasia; Osteopenia; Panhypopituitarism; Partial agenesis of the corpus callosum; Pituitary hypothyroidism; Postaxial hand polydactyly; Prominent antihelix; Seizures; Short hard palate; Short philtrum; Short stature; Single median maxillary incisor; Single naris; Sporadic; Underdeveloped tragus; Variable expressivity
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
ISPD7p21.299.96%gene with protein product614631Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Calf muscle hypertrophy; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Deeply set eye; Elevated serum creatine phosphokinase; Encephalocele; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hydrocephalus; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Limb-girdle muscular dystrophy; Lissencephaly; Low-set ears; Macrocephaly; Macroglossia; Macrogyria; Metatarsus valgus; Microphthalmia; Microtia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Partial agenesis of the corpus callosum; Peters anomaly; Polymicrogyria; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retrognathia; Scapular winging; Skeletal muscle atrophy; Slow progression; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
LARGE122q12.3100%gene with protein productFormer name = LARGE603590LARGEAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of neuronal migration; Abnormality of the periventricular white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Babinski sign; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; EEG abnormality; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Horizontal nystagmus; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Joint contracture of the hand; Lissencephaly; Lower limb hyperreflexia; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
MAP2K219p13.3100%gene with protein product601263PRKMK2Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormal heart valve morphology; Abnormal ventricular septum morphology; Abnormality of lateral ventricle; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the sternum; Abnormality of the thorax; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Biparietal narrowing; Brittle hair; Cavernous hemangioma; Cerebellar hypoplasia; Coarse facial features; Congenital cataract; Cryptorchidism; Deep palmar crease; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dysphagia; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; High forehead; High palate; Hyperextensible skin; Hyperhidrosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Narrow forehead; Nystagmus; Optic nerve hypoplasia; Palmoplantar keratoderma; Pectus excavatum; Premature birth; Prolonged bleeding time; Ptosis; Pulmonic stenosis; Scoliosis; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Specific learning disability; Strabismus; Telecanthus; Thickened helices; Underdeveloped supraorbital ridges; Webbed neck
MBTPS2Xp22.12100%gene with protein product300294KFSDAbnormal morphology of the nasolacrimal system; Abnormal vertebral morphology; Abnormality of the eyelashes; Abnormality of the fingernails; Abnormality of the ribs; Absent eyebrow; Absent eyelashes; Aganglionic megacolon; Alopecia; Alopecia totalis; Anhidrosis; Ankylosis; Blepharitis; Brain atrophy; Carious teeth; Cleft palate; Congenital onset; Conjunctivitis; Convex nasal ridge; Corneal dystrophy; Corneal erosion; Cryptorchidism; Decreased testicular size; Dementia; Developmental regression; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Ectropion; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Facial erythema; Failure to thrive; Feeding difficulties; Follicular hyperkeratosis; Folliculitis; Global developmental delay; Hearing impairment; Heat intolerance; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperconvex fingernails; Hyperkeratosis; Hypodontia; Hypohidrosis; Hypoplasia of the bladder; Hypoplasia of the corpus callosum; Hypoplastic fingernail; Hypotrichosis; Ichthyosis; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Keratitis; Low-set ears; Microcephaly; Microphthalmia; Multicystic kidney dysplasia; Nail dysplasia; Nail dystrophy; Neonatal death; Oligohydramnios; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic nerve hypoplasia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Parakeratosis; Perifollicular fibrosis; Photophobia; Plagiocephaly; Postaxial hand polydactyly; Protruding ear; Recurrent bacterial infections; Recurrent corneal erosions; Recurrent respiratory infections; Renal dysplasia; Renal hypoplasia; Scaling skin; Scarring alopecia of scalp; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Skin fissure; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Specific learning disability; Subungual hyperkeratosis; Thin eyebrow; Thin fingernail; Umbilical hernia; Unilateral chest hypoplasia; Unilateral renal agenesis; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
PAX611p1399.98%gene with protein product607108AN2Abnormal best corrected visual acuity test; Abnormality of movement; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the vagina; Abnormality of vision; Amblyopia; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Central opacification of the cornea; Cerebellar hypoplasia; Chorioretinal coloboma; Congenital glaucoma; Congenital nystagmus; Contiguous gene syndrome; Corneal opacity; Cryptorchidism; Displacement of the external urethral meatus; EEG abnormality; Everted lower lip vermilion; Generalized hyperpigmentation; Glaucoma; Global developmental delay; Hearing abnormality; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the iris; Hypospadias; Intellectual disability; Keratitis; Mask-like facies; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Nephroblastoma; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc hypoplasia; Optic nerve aplasia; Optic nerve coloboma; Optic nerve hypoplasia; Peripheral vitreous opacities; Peters anomaly; Postural tremor; Presenile cataracts; Pseudopapilledema; Ptosis; Reduced visual acuity; Retinal detachment; Scanning speech; Short stature; Slurred speech; Somatic mutation; Strabismus; Streak ovary; Subcapsular cataract; Thinning of Descemet membrane; Visual impairment; Visual loss
PAX611p1399.98%gene with protein product607108AN2Abnormal best corrected visual acuity test; Abnormality of movement; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the vagina; Abnormality of vision; Amblyopia; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Central opacification of the cornea; Cerebellar hypoplasia; Chorioretinal coloboma; Congenital glaucoma; Congenital nystagmus; Contiguous gene syndrome; Corneal opacity; Cryptorchidism; Displacement of the external urethral meatus; EEG abnormality; Everted lower lip vermilion; Generalized hyperpigmentation; Glaucoma; Global developmental delay; Hearing abnormality; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the iris; Hypospadias; Intellectual disability; Keratitis; Mask-like facies; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Nephroblastoma; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc hypoplasia; Optic nerve aplasia; Optic nerve coloboma; Optic nerve hypoplasia; Peripheral vitreous opacities; Peters anomaly; Postural tremor; Presenile cataracts; Pseudopapilledema; Ptosis; Reduced visual acuity; Retinal detachment; Scanning speech; Short stature; Slurred speech; Somatic mutation; Strabismus; Streak ovary; Subcapsular cataract; Thinning of Descemet membrane; Visual impairment; Visual loss
PAX611p1399.98%gene with protein product607108AN2Abnormal best corrected visual acuity test; Abnormality of movement; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the vagina; Abnormality of vision; Amblyopia; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Central opacification of the cornea; Cerebellar hypoplasia; Chorioretinal coloboma; Congenital glaucoma; Congenital nystagmus; Contiguous gene syndrome; Corneal opacity; Cryptorchidism; Displacement of the external urethral meatus; EEG abnormality; Everted lower lip vermilion; Generalized hyperpigmentation; Glaucoma; Global developmental delay; Hearing abnormality; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the iris; Hypospadias; Intellectual disability; Keratitis; Mask-like facies; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Nephroblastoma; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc hypoplasia; Optic nerve aplasia; Optic nerve coloboma; Optic nerve hypoplasia; Peripheral vitreous opacities; Peters anomaly; Postural tremor; Presenile cataracts; Pseudopapilledema; Ptosis; Reduced visual acuity; Retinal detachment; Scanning speech; Short stature; Slurred speech; Somatic mutation; Strabismus; Streak ovary; Subcapsular cataract; Thinning of Descemet membrane; Visual impairment; Visual loss
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PPP1CB2p23.299.68%gene with protein product600590Arnold-Chiari type I malformation; Autosomal dominant inheritance; Broad neck; Cafe-au-lait spot; Coarctation of aorta; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Delayed skeletal maturation; Delayed speech and language development; Dermal translucency; Downslanted palpebral fissures; Failure to thrive; Freckling; Generalized hypotonia; Global developmental delay; High palate; Hypertelorism; Joint hypermobility; Low-set ears; Mitral regurgitation; Optic nerve hypoplasia; Overfolded helix; Patent ductus arteriosus; Patent foramen ovale; Peripheral pulmonary artery stenosis; Posteriorly rotated ears; Prominent forehead; Pulmonic stenosis; Right bundle branch block; Short neck; Short stature; Slow-growing hair; Sparse hair; Thickened helices; Ventricular septal defect; Webbed neck
PTF1A10p12.2100%gene with protein product607194Abnormality of the pinna; Aplasia/Hypoplasia of the pancreas; Autosomal recessive inheritance; Cerebellar agenesis; Cerebellar hypoplasia; Convex nasal ridge; Death in infancy; Failure to thrive; Joint stiffness; Low-set ears; Microcephaly; Neonatal insulin-dependent diabetes mellitus; Optic nerve hypoplasia; Reduced subcutaneous adipose tissue; Seizures; Short chin; Small for gestational age; Steatorrhea; Triangular face
PTF1A10p12.2100%gene with protein product607194Abnormality of the pinna; Aplasia/Hypoplasia of the pancreas; Autosomal recessive inheritance; Cerebellar agenesis; Cerebellar hypoplasia; Convex nasal ridge; Death in infancy; Failure to thrive; Joint stiffness; Low-set ears; Microcephaly; Neonatal insulin-dependent diabetes mellitus; Optic nerve hypoplasia; Reduced subcutaneous adipose tissue; Seizures; Short chin; Small for gestational age; Steatorrhea; Triangular face
RNF113AXq24100%gene with protein product300951ZNF183Brittle hair; Cerebellar hypoplasia; Chronic diarrhea; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased antibody level in blood; Global brain atrophy; High forehead; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Mandibular prognathia; Microcephaly; Micropenis; Optic nerve hypoplasia; Progeroid facial appearance; Progressive microcephaly; Recurrent infections; Retinal dystrophy; Short stature; Slow-growing hair; Sparse hair; Wide mouth; Widely spaced primary teeth; X-linked dominant inheritancePalmoplantar keratoderma plus congenital ichthyosis
SIX614q23.1100%gene with protein product606326OPTX2Agenesis of corpus callosum; Anophthalmia; Anterior pituitary hypoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Butterfly vertebrae; Cataract; Coloboma; Cryptorchidism; Esophageal atresia; Frontal bossing; Generalized hypotonia; Global developmental delay; Hemivertebrae; Horizontal nystagmus; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Hypothalamic hamartoma; Microcephaly; Micropenis; Microphthalmia; Miosis; Missing ribs; Optic nerve hypoplasia; Patent ductus arteriosus; Postnatal growth retardation; Retinal dystrophy; Rib fusion; Sensorineural hearing impairment; Short stature; Spastic diplegia; Spastic tetraplegia; Specific learning disability; Supernumerary ribs; Ventricular septal defect; Vertebral fusion; Vertebral hypoplasia
SOX23q26.33100%gene with protein product184429Agenesis of corpus callosum; Anophthalmia; Anterior pituitary hypoplasia; Autosomal dominant inheritance; Butterfly vertebrae; Cleft palate; Coloboma; Cryptorchidism; Esophageal atresia; Frontal bossing; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hemivertebrae; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypospadias; Hypothalamic hamartoma; Microcephaly; Micropenis; Microphthalmia; Missing ribs; Nystagmus; Optic nerve hypoplasia; Patent ductus arteriosus; Postnatal growth retardation; Rib fusion; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Short stature; Spastic diplegia; Spastic tetraplegia; Specific learning disability; Strabismus; Supernumerary ribs; Tracheoesophageal fistula; Ventricular septal defect; Vertebral fusion; Vertebral hypoplasia; Visual impairment; Visual lossDisorders of Sex Development
TUBA822q11.21100%gene with protein product605742TUBAL2Autosomal recessive inheritance; Colpocephaly; Congenital onset; Global developmental delay; Hypoplasia of the brainstem; Hyporeflexia; Intellectual disability, profound; Microcephaly; Neonatal hypotonia; Optic nerve hypoplasia; Polymicrogyria; Seizures
WT111p13100%gene with protein product607102GUDAbdominal distention; Abdominal pain; Abnormal sex determination; Abnormality of the fallopian tube; Abnormality of the labia; Abnormality of the peritoneum; Abnormality of the scrotum; Abnormality of the vagina; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Aniridia; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the lungs; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Cataract; Childhood onset; Clitoral hypertrophy; Congenital diaphragmatic hernia; Contiguous gene syndrome; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Diffuse mesangial sclerosis; Displacement of the external urethral meatus; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Everted lower lip vermilion; Female external genitalia in individual with 46,XY karyotype; Focal segmental glomerulosclerosis; Glaucoma; Glomerulopathy; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal tissue inappropriate for external genitalia or chromosomal sex; Gonadoblastoma; Gynecomastia; Hearing abnormality; Hepatomegaly; Heterogeneous; Hydrometrocolpos; Hypergonadotropic hypogonadism; Hypertension; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the vagina; Hypoplastic left heart; Hypospadias; Ileus; Increased circulating gonadotropin level; Intellectual disability; Male infertility; Male pseudohermaphroditism; Malignant mesothelioma; Mediastinal lymphadenopathy; Microcephaly; Micrognathia; Micropenis; Nausea and vomiting; Nephroblastoma; Nephropathy; Nephrotic syndrome; Nystagmus; Opacification of the corneal stroma; Optic nerve hypoplasia; Osteoporosis; Ovarian gonadoblastoma; Polycystic ovaries; Primary amenorrhea; Progressive; Proteinuria; Ptosis; Pulmonary sequestration; Renal insufficiency; Sarcoma; Short stature; Somatic mutation; Sparse axillary hair; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Testicular dysgenesis; True hermaphroditism; Urogenital sinus anomaly; Vaginal atresia; Vanishing testis; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Nephrotic Syndrome


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