At a Glance
Retinitis pigmentosa 19;
Abetalipoproteinaemia;
Achromatopsia 2
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Retinitis pigmentosa 19
Abetalipoproteinaemia
Achromatopsia 2
Achromatopsia 4
Achromatopsia 7
Age-related macular degeneration 6
Asphyxiating thoracic dystrophy 2
Atrophia bulborum hereditaria
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 9
Bietti crystalline corneoretinal dystrophy
Bradyopsia
Cerebellar atrophy, visual impairment, and psychomotor retardation
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Choroideremia
Cohen syndrome
Cone dystrophy 3
Cone dystrophy 4
Cone dystrophy with supernormal rod response
Cone monochromatism
Cone-rod dystrophy 15
Cone-rod dystrophy 16
Cone-rod dystrophy 18
Cone-rod dystrophy 19
Cone-rod dystrophy 20
Cone-rod dystrophy 21
Cone-rod dystrophy 5
Cone-rod dystrophy 7
Cone-rod dystrophy 9
Cone-rod dystrophy and hearing loss
Cone-rod dystrophy and hearing loss 2
Congenital stationary night blindness, autosomal dominant 3
Congenital stationary night blindness, type 1A
Congenital stationary night blindness, type 1B
Congenital stationary night blindness, type 1C
Congenital stationary night blindness, type 1D
Congenital stationary night blindness, type 1F
Congenital stationary night blindness, type 2A
Congenital stationary night blindness, type 2B
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4
Deafness, autosomal recessive 12
Deafness, autosomal recessive 31
Deafness, autosomal recessive 48
Doyne honeycomb retinal dystrophy
EEM syndrome
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 5
Exudative vitreoretinopathy 6
Fleck retina, familial benign
Hereditary spastic paraplegia 39
Immunodeficiency 13
Infantile cerebellar-retinal degeneration
Infantile nephronophthisis
Infantile nystagmus, X-linked
Jalili syndrome
Joubert syndrome 1
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 2
Joubert syndrome 21
Joubert syndrome 3
Joubert syndrome 30
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Juvenile retinoschisis
Klippel-Feil syndrome 1, autosomal dominant
Late-onset retinal degeneration
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
MASA syndrome
Macular dystrophy, patterned, 2
Macular dystrophy, patterned, 3
Macular dystrophy, vitelliform, 4
Major affective disorder 1
Maturity-onset diabetes of the young type 6
McKusick-Kaufman syndrome
Meckel syndrome type 1
Medulloblastoma
Microcephaly and chorioretinopathy, autosomal recessive, 1
Microcephaly and chorioretinopathy, autosomal recessive, 2
Microcephaly and chorioretinopathy, autosomal recessive, 3
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcornea, myopic chorioretinal atrophy, and telecanthus
Microphthalmia, isolated 5
Microphthalmia, isolated, with coloboma 10
Morbid obesity and spermatogenic failure
Mucolipidosis type III gamma
Mucopolysaccharidosis, MPS-III-C
Muscle eye brain disease
Myopia, high, with cataract and vitreoretinal degeneration
Namaqualand hip dysplasia
Nephronophthisis
Nephronophthisis 1
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 18
Nephronophthisis 3
Nephronophthisis 4
Neuronal ceroid lipofuscinosis 3
Night blindness, congenital stationary, type 1h
Oculoauricular syndrome
Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Optic atrophy 7
Ornithine aminotransferase deficiency
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4a (zellweger)
Peroxisome biogenesis disorder 5a (zellweger)
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 8A
Persistent hyperplastic primary vitreous, autosomal recessive
Phytanic acid storage disease
Pigmentary retinal dystrophy
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Posterior column ataxia-retinitis pigmentosa syndrome
Retinal cone dystrophy 3A
Retinal cone dystrophy 4
Retinal dystrophy
Retinal dystrophy and obesity
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Retinal dystrophy, juvenile cataracts, and short stature syndrome
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa 13
Retinitis pigmentosa 17
Retinitis pigmentosa 18
Retinitis pigmentosa 2
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 30
Retinitis pigmentosa 31
Retinitis pigmentosa 33
Retinitis pigmentosa 35
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis pigmentosa 41
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 44
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 47
Retinitis pigmentosa 48
Retinitis pigmentosa 49
Retinitis pigmentosa 50
Retinitis pigmentosa 51
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 56
Retinitis pigmentosa 57
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 60
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 66
Retinitis pigmentosa 68
Retinitis pigmentosa 69
Retinitis pigmentosa 7
Retinitis pigmentosa 70
Retinitis pigmentosa 74
Retinitis pigmentosa 75
Retinitis pigmentosa 77
Retinitis pigmentosa 78
Retinitis pigmentosa 79
Retinitis pigmentosa 82 with or without situs inversus
Retinitis pigmentosa 83
Retinitis pigmentosa 84
Retinitis pigmentosa 85
Retinitis pigmentosa 86
Retinitis pigmentosa with or without skeletal anomalies
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Rhizomelic chondrodysplasia punctata type 1
Saldino-Mainzer syndrome
Sarcotubular myopathy
Senior-Loken syndrome 5
Senior-Loken syndrome 7
Senior-Loken syndrome 9
Short-rib thoracic dysplasia 19 with or without polydactyly
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Sorsby fundus dystrophy
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Stargardt Disease 3
Stargardt disease 1
Stickler syndrome, type 4
Sveinsson chorioretinal atrophy
Syndromic microphthalmia type 5
Toriello-Lacassie-Droste syndrome
Usher Syndrome, Type III
Usher syndrome type 1
Usher syndrome type 1D
Usher syndrome, type 1C
Usher syndrome, type 1G
Usher syndrome, type 2A
Usher syndrome, type 2C
Usher syndrome, type 4
Vitreoretinopathy, neovascular inflammatory
Wagner syndrome
Williams syndrome
Worth disease
ABCA4 (1p22.1);
ABHD12 (20p11.21);
ACBD5 (10p12.1);
ACO2 (22q13.2);
ADAM9 (8p11.22)
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Conditions
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Total conditions: 238
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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Test method
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Instrument *
* Instrument: Not provided
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