Name: Hereditary disorder of the visual system
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- Hereditary disorder of the visual system
- Hereditary disorder of the visual system (disorder)
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Concept ID: 363343008- Hereditary disorder of the visual system (disorder)
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ICD-10 Codes: #HLT
- + 11p partial monosomy syndrome
- Ablepharon macrostomia syndrome
- Abruzzo Erickson syndrome
- Acro-oto-ocular syndrome
- Acrorenoocular syndrome
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
- Aicardi's syndrome
- Albinotic fundus
- Alstrom syndrome (disorder)
- Aniridia and absent patella syndrome (disorder)
- Aniridia and intellectual disability syndrome (disorder)
- Aniridia, ptosis, intellectual disability, familial obesity syndrome
- Aniridia, renal agenesis, psychomotor retardation syndrome
- Anophthalmia plus syndrome
- Aplasia cutis congenita with epibulbar dermoid syndrome
- Aplasia cutis with myopia syndrome (disorder)
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)
- Atrophia bulborum hereditaria (disorder)
- Autosomal dominant cystoid macular edema (disorder)
- Autosomal dominant keratitis
- Autosomal dominant pterygium of conjunctiva (disorder)
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
- Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder)
- Behr syndrome (disorder)
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
- Blepharoptosis, myopia, ectopia lentis syndrome
- Blindness, scoliosis, arachnodactyly syndrome
- Bradyopsia (disorder)
- Brittle cornea syndrome
- CAMOS syndrome
- Cardiomyopathy with cataract and hip spine disease syndrome (disorder)
- Cataract and microcornea syndrome
- Cataract glaucoma syndrome
- Cataract with aberrant oral frenula and growth delay syndrome (disorder)
- Cataract, congenital heart disease, neural tube defect syndrome (disorder)
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)
- Cerebroretinal microangiopathy with calcifications and cysts (disorder)
- Cerebroretinal vasculopathy
- Cochleosaccular degeneration and cataract syndrome (disorder)
- Coloboma of macula with brachydactyly type B syndrome
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
- Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)
- Congenital blue dot cataract (disorder)
- Congenital cataract ichthyosis syndrome
- Congenital cataract with ataxia and deafness syndrome
- Congenital cataract with deafness and hypogonadism syndrome
- Congenital cataract with hypertrichosis and intellectual disability syndrome
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
- Congenital cataract, nephropathy, encephalopathy syndrome (disorder)
- Congenital cataracts, facial dysmorphism and neuropathy
- Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration
- Congenital hereditary facial paralysis with variable hearing loss syndrome
- Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)
- Congenital sutural cataract
- Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
- Cortical blindness, intellectual disability, polydactyly syndrome
- Cryptophthalmos syndrome
- Dacryocystitis and osteopoikilosis syndrome
- Deaf blind hypopigmentation syndrome Yemenite type (disorder)
- Deafness and myopia syndrome (disorder)
- Deafness with cataract and skeletal anomaly syndrome (disorder)
- Disorder of eye co-occurrent and due to Marfan syndrome
- Duane anomaly, myopathy, scoliosis syndrome
- Duane-radial ray syndrome
- Duplication of eyebrow and syndactyly syndrome
- Ectodermal dysplasia with blindness syndrome
- Ectopia lentis, chorioretinal dystrophy, myopia syndrome
- Encephalopathy due to sulfite oxidase deficiency (disorder)
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome
- Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)
- Epilepsy telangiectasia syndrome
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
- Familial isolated trichomegaly (disorder)
- Frank-Ter Haar syndrome (disorder)
- Glaucoma and sleep apnea syndrome (disorder)
- Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)
- Goniodysgenesis with intellectual disability and short stature syndrome (disorder)
- Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)
- Heide syndrome
- Helicoid peripapillary chorioretinal degeneration
- Hemifacial hyperplasia strabismus syndrome (disorder)
- + Hereditary choroidal dystrophy
- + Hereditary corneal dystrophy (disorder)
- Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome
- Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome
- + Hereditary optic atrophy
- + Hereditary retinal dystrophy (disorder)
- Hereditary vascular retinopathy (disorder)
- + Hereditary vitreoretinopathy
- Horizontal gaze palsy with progressive scoliosis
- Hyperferritinemia cataract syndrome
- Hypergonadotropic hypogonadism with cataract syndrome
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome
- Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)
- Hypotrichosis with juvenile macular degeneration syndrome (disorder)
- Intellectual disability with cataract and kyphosis syndrome (disorder)
- Intellectual disability, alacrima, achalasia syndrome
- Intellectual disability, cataract, calcified pinna, myopathy syndrome
- Isolated congenital alacrima (disorder)
- Isolated congenital megalocornea
- Isolated cryptophthalmos (disorder)
- Isolated optic nerve hypoplasia
- Joubert syndrome with ocular defect (disorder)
- Joubert syndrome with oculorenal defect
- Juvenile cataract, microcornea, renal glucosuria syndrome
- Karandikar Maria Kamble syndrome
- Karsch Neugebauer syndrome (disorder)
- Lenz microphthalmia syndrome (disorder)
- Lowry MacLean syndrome
- Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome
- Macular coloboma, cleft palate, hallux valgus syndrome (disorder)
- Martsolf syndrome
- Matthew Wood syndrome (disorder)
- Megalocornea with intellectual disability syndrome
- Microbrachycephaly, ptosis, cleft lip syndrome
- Microcornea with corectopia and macular hypoplasia syndrome (disorder)
- Microcornea with glaucoma and absent frontal sinus syndrome (disorder)
- Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
- Microphthalmia with brain and digit anomaly (disorder)
- Microphthalmia with brain atrophy syndrome (disorder)
- Microphthalmia with linear skin defect syndrome (disorder)
- Microspherophakia with metaphyseal dysplasia syndrome
- Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)
- Moebius syndrome (disorder)
- Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder)
- Nance-Horan syndrome
- Nasopalpebral lipoma coloboma syndrome
- + Ocular albinism (disorder)
- Oculoauricular syndrome Schorderet type
- Oculocerebral dysplasia syndrome (disorder)
- Oculocerebrofacial syndrome Kaufman type (disorder)
- + Oculocutaneous albinism
- Oculogastrointestinal muscular dystrophy (disorder)
- Oculopharyngeal muscular dystrophy (disorder)
- Oculopharyngodistal myopathy (disorder)
- Ohdo syndrome, Maat-Kievit-Brunner type
- Oliver McFarlane syndrome
- Ophthalmo-acromelic syndrome (disorder)
- Oro-facial digital syndrome type 9 (disorder)
- Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
- Peters plus syndrome (disorder)
- Pierson syndrome
- Pigmented paravenous retinochoroidal atrophy
- Polydactyly myopia syndrome
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
- Preaxial polydactyly, colobomata, intellectual disability syndrome
- Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)
- Pseudoprogeria syndrome
- Ptosis, strabismus, ectopic pupil syndrome (disorder)
- Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome
- Renal coloboma syndrome
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- Retinal degeneration, nanophthalmos, glaucoma syndrome
- Retinal detachment and occipital encephalocele (disorder)
- Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder)
- Revesz syndrome
- Ring dermoid of cornea
- Robinow-like syndrome
- Seemanova Lesny syndrome
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
- Severe X-linked intellectual disability Gustavson type
- Short tarsus with absence of lower eyelashes syndrome
- Siegler Brewer Carey syndrome (disorder)
- SOX2 anophthalmia syndrome (disorder)
- Spastic ataxia with congenital miosis
- Spastic paraplegia, glaucoma, intellectual disability syndrome
- Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)
- Spondyloepiphyseal dysplasia MacDermot type
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
- Spondylo-ocular syndrome
- Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)
- Syndromic hypoplasia of orbital border (disorder)
- Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
- Temtamy syndrome
- Upper limb defect with eye and ear abnormalities syndrome (disorder)
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
- Vici syndrome
- White forelock with malformations syndrome
- X-linked cone dysfunction syndrome with myopia (disorder)
- X-linked corneal dermoid
- X-linked retinal dysplasia
- X-linked spastic paraplegia type 2 (disorder)