XomeDxSlice Tool

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

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Phenotypes
Atypical scarring of skin

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA41p22.1100%gene with protein product601691STGD1, ABCR, RP19, STGDAbnormal choroid morphology; Abnormal electroretinogram; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the macula; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Central scotoma; Conductive hearing impairment; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Paroxysmal involuntary eye movements; Photophobia; Progressive night blindness; Reduced visual acuity; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Retinitis pigmentosa inversa; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Visual loss; Wide nasal bridge; Yellow/white lesions of the macula
AGBL52p23.3100%gene with protein product615900Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Peripheral visual field loss; Photophobia; Progressive night blindness; Sensorineural hearing impairment; Wide nasal bridge
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
ARHGEF1819p13.2100%gene with protein product616432Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Cystoid macular edema; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Photopsia; Progressive night blindness; Reduced visual acuity; Sensorineural hearing impairment; Visual field defect; Wide nasal bridge
ARL2BP16q13100%gene with protein product615407RP66Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
ARL63q11.2100%gene with protein product608845BBS3Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Brachydactyly; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; External genital hypoplasia; Glaucoma; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Multicystic kidney dysplasia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Progressive night blindness; Renal hypoplasia; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Variable expressivity; Wide nasal bridgeBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
BBS216q13100%gene with protein product606151BBSAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; External genital hypoplasia; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Posterior polar cataract; Progressive night blindness; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Wide nasal bridgeBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BEST111q12.3100%gene with protein product607854VMD2Abnormal electroretinogram; Abnormality of chorioretinal pigmentation; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Choroideremia; Conductive hearing impairment; Cystoid macular degeneration; Decreased light- and dark-adapted electroretinogram amplitude; Glaucoma; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Iris hypopigmentation; Keratoconus; Macular dystrophy; Metamorphopsia; Microcornea; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Pigmentary retinopathy; Progressive night blindness; Pulverulent cataract; Reduced visual acuity; Retinal arteriolar constriction; Retinal arteriolar occlusion; Retinal detachment; Retinal flecks; Retinal pigment epithelial atrophy; Rod-cone dystrophy; Sensorineural hearing impairment; Strabismus; Visual field defect; Visual impairment; Vitelliform-like macular lesions; Vitreous hemorrhage; Wide nasal bridge
C2ORF712p23.2100%gene with protein product613425Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Fundus atrophy; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
C8ORF378q22.1100%gene with protein product614477Abnormal electroretinogram; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the dentition; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Beaten bronze macular sheen; Blindness; Cataract; Conductive hearing impairment; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Horseshoe kidney; Hyperautofluorescent macular lesion; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the fovea; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Macular atrophy; Multicystic kidney dysplasia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Progressive visual loss; Reduced amplitude of dark-adapted bright flash electroretinogram a-wave; Reduced visual acuity; Retinal atrophy; Retinal thinning; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CA417q23.1100%gene with protein product114760RP17Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
CDHR110q23.1100%gene with protein product609502PCDH21Abnormal electroretinogram; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Cone/cone-rod dystrophy; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Progressive visual loss; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
CERKL2q31.399.99%gene with protein product608381RP26Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable light- and dark-adapted electroretinogram; Visual impairment; Wide nasal bridge
CLRN13q25.1100%gene with protein product606397USH3, USH3A, RP61Abnormal cochlea morphology; Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Astigmatism; Ataxia; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hemianopia; High hypermetropia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Iris hypopigmentation; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Scotoma; Sensorineural hearing impairment; Undetectable light- and dark-adapted electroretinogram; Vestibular dysfunction; Vestibular hypofunction; Visual field defect; Visual impairment; Visual loss; Wide nasal bridge
CNGA14p1299.92%gene with protein product123825CNCG1, CNCGAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
CNGB116q21100%gene with protein product600724CNCG2, CNCG3LAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Peripheral visual field loss; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
CRB11q31.3100%gene with protein product604210RP12Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Encephalocele; Esotropia; Glaucoma; Hemiplegia/hemiparesis; High hypermetropia; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Paravenous chorioretinal atrophy; Pendular nystagmus; Photophobia; Progressive night blindness; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Visual impairment; Vitreoretinal degeneration; Wide nasal bridge
CRX19q13.33100%gene with protein product602225CORD2Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Chorioretinal atrophy; Conductive hearing impairment; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pendular nystagmus; Peripheral visual field loss; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Visual impairment; Wide nasal bridge
DHDDS1p36.11100%gene with protein product608172Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
ERCC85q12.199.93%gene with protein product609412CKN1Abnormal auditory evoked potentials; Abnormality of skin pigmentation; Abnormality of the pinna; Abnormality of visual evoked potentials; Anhidrosis; Arrhythmia; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Basal ganglia calcification; Carious teeth; Cataract; Cerebral atrophy; Cryptorchidism; Cutaneous photosensitivity; Decreased lacrimation; Decreased nerve conduction velocity; Delayed eruption of primary teeth; Dementia; Dental malocclusion; Dry hair; Dry skin; Dysarthria; Freckling; Gait disturbance; Hepatomegaly; Heterogeneous; Hypermetropia; Hypertension; Hypogonadism; Hypoplasia of teeth; Hypoplastic iliac wing; Hypoplastic pelvis; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Kyphosis; Limitation of joint mobility; Loss of facial adipose tissue; Mandibular prognathia; Menstrual irregularities; Microcephaly; Micropenis; Muscle weakness; Normal pressure hydrocephalus; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Pigmentary retinopathy; Polyneuropathy; Progeroid facial appearance; Proteinuria; Reduced subcutaneous adipose tissue; Renal insufficiency; Retinal pigment epithelial mottling; Seizures; Sensorineural hearing impairment; Severe postnatal growth retardation; Slender nose; Sparse hair; Splenomegaly; Square pelvis bone; Strabismus; Thickened calvaria; Thymic hormone decreased; Tremor
EYS6q1299.96%gene with protein product612424C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable electroretinogram; Wide nasal bridge
FAM161A2p1599.98%gene with protein product613596RP28Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
FSCN217q25.3100%gene with protein product607643Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Chorioretinal atrophy; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GUCA1B6p21.1100%gene with protein product602275Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
HGSNAT8p11.21-p11.99.95%gene with protein product610453TMEM76Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Asymmetric septal hypertrophy; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Cellular metachromasia; Coarse facial features; Coarse hair; Conductive hearing impairment; Constriction of peripheral visual field; Dense calvaria; Diarrhea; Dolichocephaly; Dysostosis multiplex; Dysphagia; Everted lower lip vermilion; Glaucoma; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hernia; Hirsutism; Hyperactivity; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Joint stiffness; Keratoconus; Kyphoscoliosis; Loss of speech; Motor delay; Motor deterioration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovoid thoracolumbar vertebrae; Photophobia; Progressive night blindness; Recurrent upper respiratory tract infections; Retinal atrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs; Variable expressivity; Wide nasal bridge
IDH3B20p13100%gene with protein product604526Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Decreased light- and dark-adapted electroretinogram amplitude; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
IFT14016p13.3100%gene with protein product614620WDTC2Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Brachydactyly; Cataract; Cholestasis; Conductive hearing impairment; Cone-shaped epiphysis; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the capital femoral epiphysis; Infantile onset; Intellectual disability; Keratoconus; Micromelia; Muscular hypotonia; Narrow chest; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Renal cyst; Renal dysplasia; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Short femoral neck; Short foot; Short phalanx of finger; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney disease; Visual loss; Wide nasal bridgeHeterotaxy ; Short-Rib Thoracic Dysplasia
IFT1722p23.3100%gene with protein product607386Abnormal electroretinogram; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Bell-shaped thorax; Blindness; Brachydactyly; Cataract; Cholestasis; Chronic kidney disease; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Micromelia; Multicystic kidney dysplasia; Narrow chest; Nephronophthisis; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pancreatitis; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Respiratory insufficiency; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Splenomegaly; Thoracic dysplasia; Thoracic hypoplasia; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity; Short-Rib Thoracic Dysplasia
IMPDH17q32.1100%gene with protein product146690RP10Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Infantile onset; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable light- and dark-adapted electroretinogram; Visual impairment; Wide nasal bridge
IMPG23q12.3100%gene with protein product607056Abnormal electroretinogram; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Central scotoma; Choroideremia; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Iris hypopigmentation; Keratoconus; Macular dystrophy; Moderate visual impairment; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Posterior subcapsular cataract; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Visual impairment; Vitelliform-like macular lesions; Wide nasal bridge
KIZ20p11.2399.88%gene with protein product615757NCRNA00153, C20orf19, PLK1S1Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable electroretinogram; Wide nasal bridge
KLHL77p15.3100%gene with protein product611119Abnormal anterior chamber morphology; Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Abnormality of retinal pigmentation; Abnormality of the pancreas; Abnormality of the retinal vasculature; Abnormality of the testis; Accessory oral frenulum; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Biparietal narrowing; Blindness; Camptodactyly of finger; Cataract; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Conductive hearing impairment; Convex nasal ridge; Death in infancy; Elbow dislocation; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertelorism; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Keratoconus; Limitation of joint mobility; Low anterior hairline; Low-set ears; Microcephaly; Narrow chest; Nevus flammeus of the forehead; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pallor; Photophobia; Platyspondyly; Progressive night blindness; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Short thorax; Strabismus; Supernumerary nipple; Synophrys; Thick hair; Trigonocephaly; Ulnar deviation of finger; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide intermamillary distance; Wide nasal bridge
LRAT4q32.1100%gene with protein product604863Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital blindness; Constriction of peripheral visual field; Decreased light- and dark-adapted electroretinogram amplitude; Encephalocele; Falls; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pallor; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Wide nasal bridge
MAK6p24.298.47%gene with protein product154235Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Wide nasal bridge
MERTK2q1399.98%gene with protein product604705Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular atrophy; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Peripheral retinal atrophy; Photophobia; Progressive night blindness; Progressive visual loss; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
NCSTN1q23.299.99%gene with protein product605254Acne inversa; Atypical scarring of skin; Autosomal dominant inheritance
NEK21q32.3100%gene with protein product604043Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
NR2E315q2399.92%gene with protein product604485Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Cystoid macular degeneration; Glaucoma; Hemeralopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular edema; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Red-green dyschromatopsia; Retinoschisis; Rod-cone dystrophy; Sensorineural hearing impairment; Tritanomaly; Undetectable electroretinogram; Undetectable light- and dark-adapted electroretinogram; Vitreoretinal degeneration; Wide nasal bridge
NRL14q11.2-q12100%gene with protein product162080Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Chorioretinal atrophy; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Peripapillary chorioretinal atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable electroretinogram; Visual impairment; Wide nasal bridge
OFD1Xp22.299.66%gene with protein product300170CXorf5, RP23Abnormal cortical gyration; Abnormal electroretinogram; Abnormal heart morphology; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the cerebellum; Abnormality of the retinal vasculature; Abnormality of the rib cage; Abnormality of the testis; Abnormality of toe; Accessory oral frenulum; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Alveolar ridge overgrowth; Anteverted nares; Arachnoid cyst; Ataxia; Atypical scarring of skin; Bifid tongue; Blindness; Brachydactyly; Broad alveolar ridges; Broad palm; Carious teeth; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital onset; Deep philtrum; Downslanted palpebral fissures; Enlarged cisterna magna; Epicanthus; Facial asymmetry; Facial capillary hemangioma; Feeding difficulties in infancy; Finger syndactyly; Foot polydactyly; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Gray matter heterotopias; Growth delay; Hamartoma of tongue; Hearing impairment; Hepatic cysts; Hepatic fibrosis; High palate; Hirsutism; Hydrocephalus; Hyperactive deep tendon reflexes; Hyperinsulinemia; Hypertelorism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of dental enamel; Hypoplasia of penis; Hypothalamic hamartoma; Increased number of teeth; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Keratoconus; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip; Microcephaly; Micropenis; Microretrognathia; Milia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovarian cyst; Photophobia; Pneumonia; Polycystic kidney dysplasia; Polydactyly; Porencephalic cyst; Postaxial polydactyly; Posteriorly rotated ears; Progressive night blindness; Proteinuria; Radial deviation of finger; Recurrent infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Reduced bone mineral density; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Short finger; Short neck; Short nose; Short stature; Short toe; Single transverse palmar crease; Small nail; Sparse hair; Syndactyly; Talipes equinovarus; Tapered finger; Telecanthus; Thick vermilion border; Thickened nuchal skin fold; Thin upper lip vermilion; Tongue nodules; U-Shaped upper lip vermilion; Underdeveloped nasal alae; Wide intermamillary distance; Wide mouth; Wide nasal bridge; Wide nose; X-linked dominant inheritance; X-linked recessive inheritanceHeterotaxy ; Obesity
PDE6A5q32100%gene with protein product180071PDEAAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Peripheral visual field loss; Photophobia; Pigmentary retinopathy; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
PDE6B4p16.399.86%gene with protein product180072PDEBAbnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital stationary night blindness; Glaucoma; High myopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc hypoplasia; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
PDE6G17q21.1100%gene with protein product180073PDEGAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Cystoid macular edema; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PRCD17q25.199.86%gene with protein product610598Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable electroretinogram; Wide nasal bridge
PROM14p15.3299.12%gene with protein product604365PROML1, MCDR2, STGD4Abnormal choroid morphology; Abnormal electroretinogram; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the macula; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Central scotoma; Conductive hearing impairment; Cone/cone-rod dystrophy; Dyschromatopsia; Glaucoma; Granular macular appearance; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Macular dystrophy; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Paroxysmal involuntary eye movements; Perifoveal ring of hyperautofluorescence; Peripheral visual field loss; Photophobia; Progressive night blindness; Reduced visual acuity; Retinal flecks; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable electroretinogram; Wide nasal bridge; Yellow/white lesions of the macula
PRPF31q21.299.94%gene with protein product607301RP18Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Progressive visual field defects; Retinal arteriolar constriction; Rod-cone dystrophy; Scotoma; Sensorineural hearing impairment; Wide nasal bridge
PRPF3119q13.4299.98%gene with protein product606419RP11Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Incomplete penetrance; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
PRPF49q3299.77%gene with protein product607795Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
PRPF620q13.33100%gene with protein product613979C20orf14Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
PRPF817p13.3100%gene with protein product607300RP13Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypopigmentation of the fundus; Hypoplasia of penis; Incomplete penetrance; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
PRPH26p21.179.5%gene with protein product179605RP7, RDSAbnormal choroid morphology; Abnormal electroretinogram; Abnormal foveal morphology; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of visual evoked potentials; Adult-onset night blindness; Anteverted nares; Aplasia/Hypoplasia of the macula; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Central scotoma; Chorioretinal atrophy; Choroideremia; Conductive hearing impairment; Constriction of peripheral visual field; Fundus albipunctatus; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Iris hypopigmentation; Keratoconus; Macular atrophy; Macular degeneration; Macular dystrophy; Metamorphopsia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Paroxysmal involuntary eye movements; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Reticular retinal dystrophy; Retinal flecks; Retinal pigment epithelial atrophy; Retinal pigment epithelial mottling; Retinal thinning; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Visual impairment; Vitelliform-like macular lesions; Wide nasal bridge; Yellow/white lesions of the macula
RBP310q11.22100%gene with protein product180290Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Central scotoma; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Posterior subcapsular cataract; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
RDH1214q24.1100%gene with protein product608830Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Wide nasal bridge
REEP619p13.399.93%gene with protein product609346C19orf32Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Posterior subcapsular cataract; Progressive night blindness; Reduced visual acuity; Sensorineural hearing impairment; Wide nasal bridge
RGR10q23.1100%gene with protein product600342Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Decreased light- and dark-adapted electroretinogram amplitude; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal pigment epithelial atrophy; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
RHO3q22.1100%gene with protein product180380RP4Abnormal electroretinogram; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Congenital stationary night blindness; Decreased light- and dark-adapted electroretinogram amplitude; Fundus albipunctatus; Glaucoma; High myopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc hypoplasia; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Retinal flecks; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Wide nasal bridge
RLBP115q26.1100%gene with protein product180090Abnormal electroretinogram; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Fundus albipunctatus; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal dystrophy; Retinal flecks; Scotoma; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
ROM111q13100%gene with protein product180721Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Adult-onset night blindness; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
RP18q11.23-q12.100%gene with protein product603937Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Heterogeneous; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable light- and dark-adapted electroretinogram; Wide nasal bridgeAlbinism ; Autoimmune Disorders ; Palmoplantar keratoderma plus congenital ichthyosis
RP2Xp11.3100%gene with protein product300757Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Blindness; Cataract; Chorioretinal degeneration; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge; X-linked inheritance
RP97p14.398.3%gene with protein product607331Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Undetectable light- and dark-adapted electroretinogram; Wide nasal bridge
RPE651p31.3100%gene with protein product180069RP20Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar vermis hypoplasia; Conductive hearing impairment; Decreased light- and dark-adapted electroretinogram amplitude; Encephalocele; Eye poking; Fundus atrophy; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Wide nasal bridge
RPGRXp11.499.06%gene with protein productDue to sequence complexity, sensitivity to variants in the ORF15 region may be limited.312610CRD, RP3, RP15, COD1Abnormal electroretinogram; Abnormality of color vision; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atelectasis; Atypical scarring of skin; Blindness; Cataract; Chronic sinusitis; Conductive hearing impairment; Cone dysfunction syndrome; Cone/cone-rod dystrophy; Dyschromatopsia; Exotropia; Glaucoma; High-frequency hearing impairment; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Macular scar; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Otitis media; Pendular nystagmus; Photophobia; Progressive night blindness; Recurrent bronchitis; Recurrent Haemophilus influenzae infections; Recurrent respiratory infections; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceHeterotaxy
SAG2q37.199.98%gene with protein product181031Abnormal electroretinogram; Abnormality of macular pigmentation; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Chorioretinal atrophy; Conductive hearing impairment; Congenital stationary night blindness; Decreased light- and dark-adapted electroretinogram amplitude; Glaucoma; Hemeralopia; High myopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc hypoplasia; Photophobia; Pigmentary retinopathy; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
SCAPER15q24.399.48%gene with protein product611611ZNF291Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Sensorineural hearing impairment; Wide nasal bridge
SEMA4A1q22100%gene with protein product607292SEMABAbnormal electroretinogram; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of skin pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Cone/cone-rod dystrophy; Epiphora; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Peripheral visual field loss; Photophobia; Progressive night blindness; Progressive visual loss; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
SLC7A143q26.2100%gene with protein product615720Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal atrophy; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Wide nasal bridge
SNRNP2002q11.2100%gene with protein product601664ASCC3L1, RP33Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Progressive night blindness; Retinal pigment epithelial atrophy; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge
SPATA714q31.399.99%gene with protein product609868LCA3Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Seizures; Sensorineural hearing impairment; Severe visual impairment; Wide nasal bridge
TFAP2A6p24.399.95%gene with protein product107580TFAP2, AP2TFAbnormality of the dentition; Abnormality of the pinna; Agenesis of cerebellar vermis; Anophthalmia; Aplasia cutis congenita; Atypical scarring of skin; Autosomal dominant inheritance; Branchial anomaly; Broad nasal tip; Cataract; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Deep philtrum; Depressed nasal bridge; Dermal atrophy; Dolichocephaly; Duplication of internal organs; Ectopic thymus tissue; Elbow flexion contracture; Everted lower lip vermilion; Fingernail dysplasia; Fusion of middle ear ossicles; Gastroesophageal reflux; Hamartoma; Hemangioma; High palate; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic superior helix; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower lip pit; Malar flattening; Malrotation of colon; Microcephaly; Microdontia; Micrognathia; Microphthalmia; Microtia; Myopia; Nasal speech; Nasolacrimal duct obstruction; Neurological speech impairment; Non-midline cleft lip; Nystagmus; Overfolded helix; Postauricular pit; Posteriorly rotated ears; Preauricular pit; Preaxial hand polydactyly; Premature graying of hair; Proximal placement of thumb; Ptosis; Pyloric stenosis; Reduced number of teeth; Renal agenesis; Renal cyst; Retinal coloboma; Seizures; Sensorineural hearing impairment; Short nasal septum; Short neck; Short stature; Short thumb; Single transverse palmar crease; Small forehead; Strabismus; Supernumerary nipple; Supraauricular pit; Telecanthus; Upslanted palpebral fissure; White forelock; Wide intermamillary distance; Wide nasal bridge
TFAP2A6p24.399.95%gene with protein product107580TFAP2, AP2TFAbnormality of the dentition; Abnormality of the pinna; Agenesis of cerebellar vermis; Anophthalmia; Aplasia cutis congenita; Atypical scarring of skin; Autosomal dominant inheritance; Branchial anomaly; Broad nasal tip; Cataract; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Deep philtrum; Depressed nasal bridge; Dermal atrophy; Dolichocephaly; Duplication of internal organs; Ectopic thymus tissue; Elbow flexion contracture; Everted lower lip vermilion; Fingernail dysplasia; Fusion of middle ear ossicles; Gastroesophageal reflux; Hamartoma; Hemangioma; High palate; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic superior helix; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower lip pit; Malar flattening; Malrotation of colon; Microcephaly; Microdontia; Micrognathia; Microphthalmia; Microtia; Myopia; Nasal speech; Nasolacrimal duct obstruction; Neurological speech impairment; Non-midline cleft lip; Nystagmus; Overfolded helix; Postauricular pit; Posteriorly rotated ears; Preauricular pit; Preaxial hand polydactyly; Premature graying of hair; Proximal placement of thumb; Ptosis; Pyloric stenosis; Reduced number of teeth; Renal agenesis; Renal cyst; Retinal coloboma; Seizures; Sensorineural hearing impairment; Short nasal septum; Short neck; Short stature; Short thumb; Single transverse palmar crease; Small forehead; Strabismus; Supernumerary nipple; Supraauricular pit; Telecanthus; Upslanted palpebral fissure; White forelock; Wide intermamillary distance; Wide nasal bridge
TGFBR19q22.33100%gene with protein product190181MSSE, ESS1Abnormality iris morphology; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Arachnodactyly; Arterial dissection; Arterial tortuosity; Ascending aortic dissection; Atypical scarring of skin; Bifid uvula; Blue sclerae; Camptodactyly of finger; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Craniosynostosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; High palate; Hypertelorism; Hypertension; Left ventricular failure; Malar flattening; Micrognathia; Oral cleft; Paroxysmal dyspnea; Patent ductus arteriosus; Pes planus; Scoliosis; Striae distensae; Tall stature; Uterine rupture
TGFBR23p24.1100%gene with protein product190182MFS2Abdominal pain; Abnormality iris morphology; Abnormality of the sternum; Abnormality of the voice; Anxiety; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Arachnodactyly; Arterial dissection; Arterial tortuosity; Ascending aortic dissection; Attention deficit hyperactivity disorder; Atypical scarring of skin; Autosomal dominant inheritance; Bifid uvula; Blue sclerae; Brachydactyly; Camptodactyly; Camptodactyly of finger; Cardiomegaly; Chest pain; Clinodactyly of the 5th toe; Colon cancer; Constipation; Coronary artery atherosclerosis; Cough; Craniosynostosis; Cutis marmorata; Cystic medial necrosis of the aorta; Death in early adulthood; Death in infancy; Depressivity; Dermal translucency; Descending aortic dissection; Esophageal carcinoma; Exertional dyspnea; Exotropia; Fatigue; Feeding difficulties in infancy; Gastrointestinal hemorrhage; Generalized arterial tortuosity; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hypertelorism; Hypertension; Hypertonia; Increased intracranial pressure; Irritability; Joint contracture of the hand; Joint laxity; Left ventricular failure; Malabsorption; Malar flattening; Micrognathia; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Oral cleft; Paroxysmal dyspnea; Patent ductus arteriosus; Pes planus; Proptosis; Pulmonary artery aneurysm; Retrognathia; Scoliosis; Seizures; Squamous cell carcinoma; Striae distensae; Talipes equinovarus; Tall stature; Uterine rupture; Weight loss
TOPORS9p21.1100%gene with protein product609507RP31Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Retinal pigment epithelial atrophy; Rod-cone dystrophy; Sensorineural hearing impairment; Visual field defect; Wide nasal bridge
TTC814q31.3100%gene with protein product608132Abnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Brachycephaly; Cataract; Cognitive impairment; Conductive hearing impairment; Glaucoma; Global developmental delay; High myopia; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Keratoconus; Macular degeneration; Multicystic kidney dysplasia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Short stature; Visual impairment; Wide nasal bridgeBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
TUB11p15.4100%gene with protein product601197Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Astigmatism; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Myopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Reduced visual acuity; Retinal dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridgeObesity
TULP16p21.31100%gene with protein product602280RP14Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital nystagmus; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Impaired smooth pursuit; Intellectual disability; Keratoconus; Muscular hypotonia; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Pigmentary retinopathy; Progressive night blindness; Retinal degeneration; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Slow pupillary light response; Visual impairment; Wide nasal bridge
UROS10q26.2100%gene with protein product606938Abnormal blistering of the skin; Abnormal urinary color; Abnormality of the foot; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the mouth; Absent eyebrow; Alopecia; Atypical scarring of skin; Autosomal recessive inheritance; Cholelithiasis; Congenital onset; Conjunctivitis; Corneal scarring; Cutaneous photosensitivity; Hemolytic anemia; Hyperpigmentation of the skin; Hypertrichosis; Hypopigmentation of the skin; Immunodeficiency; Joint contracture of the hand; Loss of eyelashes; Osteolysis; Osteopenia; Pathologic fracture; Recurrent fractures; Recurrent skin infections; Scleroderma; Short stature; Splenomegaly; Thickened skin; Thrombocytopenia; Vertebral compression fractures
UROS10q26.2100%gene with protein product606938Abnormal blistering of the skin; Abnormal urinary color; Abnormality of the foot; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the mouth; Absent eyebrow; Alopecia; Atypical scarring of skin; Autosomal recessive inheritance; Cholelithiasis; Congenital onset; Conjunctivitis; Corneal scarring; Cutaneous photosensitivity; Hemolytic anemia; Hyperpigmentation of the skin; Hypertrichosis; Hypopigmentation of the skin; Immunodeficiency; Joint contracture of the hand; Loss of eyelashes; Osteolysis; Osteopenia; Pathologic fracture; Recurrent fractures; Recurrent skin infections; Scleroderma; Short stature; Splenomegaly; Thickened skin; Thrombocytopenia; Vertebral compression fractures
USH2A1q41100%gene with protein product608400USH2Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Congenital sensorineural hearing impairment; Glaucoma; Hemianopia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Iris hypopigmentation; Keratoconus; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Scotoma; Sensorineural hearing impairment; Visual field defect; Visual impairment; Visual loss; Wide nasal bridge
ZNF40811p11.299.98%gene with protein product616454Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Exudative vitreoretinopathy; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Photophobia; Posterior subcapsular cataract; Posterior vitreous detachment; Progressive night blindness; Progressive visual loss; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Wide nasal bridge
ZNF46916q24.2100%gene with protein product612078Abnormality of hair pigmentation; Atypical scarring of skin; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Conductive hearing impairment; Congenital hip dislocation; Corneal dystrophy; Corneal scarring; Decreased corneal thickness; Dentinogenesis imperfecta; Disproportionate tall stature; Epicanthus; Gait disturbance; Hearing impairment; High myopia; Hyperextensible skin; Joint hyperflexibility; Joint laxity; Keratoconus; Keratoglobus; Macrocephaly; Mitral valve prolapse; Molluscoid pseudotumors; Myalgia; Myopia; Osteoporosis; Palmoplantar cutis laxa; Red hair; Scoliosis; Sensorineural hearing impairment; Soft skin; Spondylolisthesis; Visual loss
ZNF5132p23.399.97%gene with protein product613598Abnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Glaucoma; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Peripheral visual field loss; Photophobia; Progressive night blindness; Rod-cone dystrophy; Sensorineural hearing impairment; Severe visual impairment; 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.


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(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