At a Glance
Microphthalmia, isolated, with coloboma 7;
3-Methylglutaconic aciduria type 3;
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
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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
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior segment dysgenesis
Anterior segment dysgenesis 1
Anterior segment dysgenesis 3
Anterior segment dysgenesis 4
Anterior segment dysgenesis 6
Anterior segment dysgenesis 7
Anterior segment dysgenesis 8
Arrhinia with choanal atresia and microphthalmia syndrome
Atrophia bulborum hereditaria
Autosomal dominant optic atrophy classic form
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
Brain small vessel disease 1 with or without ocular anomalies
Branchiooculofacial syndrome
Branchiootorenal Syndrome 1
Brittle cornea syndrome 2
CHARGE association
CHIME syndrome
Cataract 1
Cataract 11
Cataract 12, multiple types
Cataract 13 with adult i phenotype
Cataract 15, multiple types
Cataract 16, multiple types
Cataract 18
Cataract 19, multiple types
Cataract 20 multiple types
Cataract 21, multiple types
Cataract 23, multiple types
Cataract 3, multiple types
Cataract 30
Cataract 31 multiple types
Cataract 33, multiple types
Cataract 34, multiple types
Cataract 39, multiple types
Cataract 4
Cataract 40
Cataract 41
Cataract 42
Cataract 43
Cataract 44
Cataract 45
Cataract 5 multiple types
Cataract 6, multiple types
Cataract Hutterite type
Cataract, autosomal dominant
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, juvenile, with microcornea and glucosuria
Cataract-intellectual disability-hypogonadism syndrome
Cerebellar, ocular, craniofacial, and genital syndrome
Cerebrooculofacioskeletal syndrome 1
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 nerve (disease)
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Congenital cataracts, hearing loss, and neurodegeneration
Congenital cataracts-facial dysmorphism-neuropathy syndrome
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
Congenital stromal corneal dystrophy
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
Culler-Jones syndrome
Czech dysplasia, metatarsal type
Deficiency of galactokinase
Dent disease type 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Ectopia lentis, isolated, autosomal dominant
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
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
Fraser syndrome 1
Fraser syndrome 2
Fraser syndrome 3
Glaucoma 1, open angle, A
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 1
Heimler syndrome 2
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Hereditary hyperferritinemia with congenital cataracts
Hypomagnesemia 5, renal, with ocular involvement
Incontinentia pigmenti syndrome
Irido-corneo-trabecular dysgenesis
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 9
Joubert syndrome with hepatic defect
Kahrizi syndrome
Keratoconus 1
Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 3, autosomal dominant
Knobloch syndrome 1
LCAT deficiency
Leber congenital amaurosis 17
Lenz microphthalmia syndrome
Linear skin defects with multiple congenital anomalies 2
Lowe syndrome
Macular corneal dystrophy
Marfan syndrome
Marinesco-Sjögren syndrome
Marshall syndrome
Matthew-Wood syndrome
Meckel syndrome type 6
Meckel syndrome, type 3
Meckel syndrome, type 5
Meesmann corneal dystrophy
Microcephaly, congenital cataract, and psoriasiform dermatitis
Microcornea, myopic chorioretinal atrophy, and telecanthus
Microphthalmia with brain and digit anomalies
Microphthalmia with limb anomalies
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
Nuclear pulverulent cataract
Ocular coloboma, autosomal recessive
Oculoauricular syndrome
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Oculofaciocardiodental syndrome
Oculotrichoanal syndrome
Optic atrophy 3
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
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 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
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 6A
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder type 3B
Peters plus syndrome
Pierson syndrome
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Primary open angle glaucoma
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
Rhizomelic chondrodysplasia punctata type 5
Ring dermoid of cornea
Roberts-SC phocomelia syndrome
Rothmund-Thomson syndrome
Sengers syndrome
Smith-Lemli-Opitz syndrome
Spinocerebellar ataxia 46
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type I, nonsyndromic ocular
Syndromic microphthalmia type 5
Temtamy syndrome
Tietz syndrome
Vici syndrome
Vitelliform macular dystrophy
Vitreoretinochoroidopathy
Waardenburg syndrome type 1
Waardenburg syndrome type 2A
Waardenburg syndrome type 3
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 syndrome 1
Wolfram-like syndrome, autosomal dominant
Zellweger syndrome
Zonular pulverulent cataract 3
ABCB6 (2q35);
ABHD12 (20p11.21);
ACTB (7p22.1);
ACVR1 (2q24.1);
ACVR1C (2q24.1)
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Total conditions: 263
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Total methods: 0
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