At a Glance
Microphthalmia, isolated, with coloboma 7;
3-Methylglutaconic aciduria type 3;
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
more...
⨉
Microphthalmia, isolated, with coloboma 7
3-Methylglutaconic aciduria type 3
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Abortive cerebellar ataxia
Age-related macular degeneration 5
Alagille syndrome 1
Alagille syndrome 2
Albinism, ocular, with sensorineural deafness
Amyotrophic lateral sclerosis type 12
Aniridia 1
Anophthalmos with limb anomalies
Anterior segment dysgenesis
Anterior segment dysgenesis 3
Anterior segment dysgenesis 6
Anterior segment dysgenesis 7
Anterior segment mesenchymal dysgenesis
Arhinia choanal atresia microphthalmia
Atrophia bulborum hereditaria
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
Ayme-gripp syndrome
Baraitser-Winter syndrome 1
Bardet-Biedl syndrome 14
Bestrophinopathy, autosomal recessive
Blepharophimosis, ptosis, and epicanthus inversus
Branchiooculofacial syndrome
Brittle cornea syndrome 2
CHARGE association
COACH syndrome
Cataract 1
Cataract 11
Cataract 12, multiple types
Cataract 13 with adult i phenotype
Cataract 15, multiple types
Cataract 16, multiple types
Cataract 19, multiple types
Cataract 21, multiple types
Cataract 23, multiple types
Cataract 3, multiple types
Cataract 30
Cataract 33, multiple types
Cataract 34, multiple types
Cataract 39, multiple types
Cataract 4
Cataract 40
Cataract 41
Cataract 43
Cataract 44
Cataract 45
Cataract 6, multiple types
Cataract Hutterite type
Cataract, autosomal dominant
Cataract, autosomal recessive congenital 2
Cataract, autosomal recessive congenital 4
Cataract, autosomal recessive congenital 5
Cataract, congenital nuclear, autosomal recessive 2
Cataract, congenital nuclear, autosomal recessive 3
Cataract, congenital zonular, with sutural opacities
Cataract, coppock-like
Cataract, floriform
Cataract, juvenile, with microcornea and glucosuria
Cataract, microphthalmia and nystagmus
Cataract, posterior polar, 3
Cerebro-oculo-facio-skeletal syndrome
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 3
Cerebrooculofacioskeletal syndrome 4
Charcot-Marie-Tooth disease, demyelinating, type 4F
Charcot-Marie-Tooth disease, type 4B2
Cholestanol storage disease
Cockayne syndrome type A
Cohen syndrome
Coloboma of optic disc
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Stromal Corneal Dystrophy
Congenital cataracts, hearing loss, and neurodegeneration
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Congenital ocular coloboma
Congenital primary aphakia
Cornea plana 2
Corneal dystrophy, Fuchs endothelial 1
Corneal dystrophy, Fuchs endothelial, 8
Corneal dystrophy, posterior polymorphous, 2
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniolenticulosutural dysplasia
Cryptophthalmos syndrome
Culler-Jones syndrome
Czech dysplasia metatarsal type
Deafness enamel hypoplasia nail defects
Deficiency of galactokinase
Dent disease 2
Diabetes mellitus AND insipidus with optic atrophy AND deafness
Dominant hereditary optic atrophy
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Ectopia lentis, isolated, autosomal dominant
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
FRASER SYNDROME 2
FRASER SYNDROME 3
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
Familial exudative vitreoretinopathy, X-linked
Fish-eye disease
Fleck corneal dystrophy
Foveal hypoplasia 2
Foveal hypoplasia and presenile cataract syndrome
Frank Ter Haar syndrome
Glaucoma 1, open angle, G
Glaucoma 1, open angle, O
Glaucoma 3, primary congenital, A
Glaucoma 3, primary congenital, d
Glaucoma, normal tension, susceptibility to
Hajdu-Cheney syndrome
Heimler syndrome 2
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Hyperferritinemia cataract syndrome
Hypomagnesemia 5, renal, with ocular involvement
Incontinentia pigmenti syndrome
Infantile Refsum's disease
Irido-corneo-trabecular dysgenesis
Iridogoniodysgenesis, dominant type
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 9
Kahrizi syndrome
Keratoconus 1
Klein-Waardenberg's syndrome
Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 3, autosomal dominant
Knobloch syndrome 1
Lamellar cataract
Leber congenital amaurosis 17
Lenz microphthalmia syndrome
Linear skin defects with multiple congenital anomalies 2
Lowe syndrome
Macular corneal dystrophy Type I
Marfan syndrome
Marinesco-Sjögren syndrome
Marles Greenberg Persaud syndrome
Marshall syndrome
Martsolf syndrome
Meckel syndrome type 3
Meckel syndrome type 5
Meckel syndrome type 6
Meesman's corneal dystrophy
Melnick-Fraser syndrome
Membranous cataract
Microcephaly, congenital cataract, and psoriasiform dermatitis
Microcornea, myopic chorioretinal atrophy, and telecanthus
Microphthalmia syndromic 3
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 9
Microphthalmia, isolated 2
Microphthalmia, isolated 3
Microphthalmia, isolated 4
Microphthalmia, isolated 5
Microphthalmia, isolated 6
Microphthalmia, isolated 7
Microphthalmia, isolated 8
Microphthalmia, isolated, with coloboma 10
Microphthalmia, isolated, with coloboma 3
Microphthalmia, isolated, with coloboma 5
Microphthalmia, isolated, with coloboma 6
Microphthalmia, isolated, with coloboma 9
Microphthalmia, syndromic 11
Microphthalmia, syndromic 12
Microphthalmia, syndromic 13
Microphthalmia/coloboma and skeletal dysplasia syndrome
Microspherophakia
Mitochondrial complex I deficiency, nuclear type 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Myopia, high, with cataract and vitreoretinal degeneration
N-terminal acetyltransferase deficiency
Nail-patella syndrome
Nance-Horan syndrome
Nanophthalmos 2
Nephrotic syndrome, type 5, with or without ocular abnormalities
Norum disease
Ocular coloboma, autosomal recessive
Oculoauricular syndrome
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Oculofaciocardiodental syndrome
Optic atrophy and cataract, autosomal dominant
Optic nerve hypoplasia, bilateral
Orofacial cleft 11
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 10b
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4a (zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5a (zellweger)
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Peters plus syndrome
Pierson syndrome
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Porencephaly 1
Primary open angle glaucoma
Primary open angle glaucoma juvenile onset 1
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
Renpenning syndrome 1
Retinal dystrophy and iris coloboma with or without congenital cataract
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Retinal dystrophy, juvenile cataracts, and short stature syndrome
Retinitis pigmentosa 17
Retinitis pigmentosa 50
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Ring dermoid of cornea
Roberts-SC phocomelia syndrome
Rothmund-Thomson syndrome
SPINOCEREBELLAR ATAXIA 46
Sengers syndrome
Smith-Lemli-Opitz syndrome
Stickler syndrome type 1
Stickler syndrome, type 2
Stickler syndrome, type I, nonsyndromic ocular
Temtamy syndrome
Tietz syndrome
Vici syndrome
Vitelliform macular dystrophy type 2
Vitreoretinochoroidopathy
Waardenburg syndrome type 1
Waardenburg syndrome type 2A
Warburg micro syndrome 1
Warburg micro syndrome 2
Warburg micro syndrome 3
Warburg micro syndrome 4
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 2
Weill-Marchesani syndrome 3
Wolfram-like syndrome, autosomal dominant
Zonular pulverulent cataract 3
Zunich neuroectodermal syndrome
ABCB6 (2q35);
ABHD12 (20p11.21);
ACTB (7p22.1);
ACVR1 (2q24.1);
ADAMTS10 (19p13.2)
more...
Conditions
Help
Total conditions: 253
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
Help
Test method
Help
Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
