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Terms: night blindness, jaundice, cataracts, etc.
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E
Disorder Name Genes Alternate Names OMIM Inheritance
External Ophthalmoplegia, POLG and mtDNA Mutations POLG, mitochondria PEOA1, PEOB, ocular myopathy with hypogonadism 157640, 258450 autosomal recessive, autosomal dominant
External Ophthalmoplegia, Progressive, with mtDNA Deletions, AR 3 TK2 PEOB3, Progressive External Ophthalmoplegia Autosomal Recessive 3 617069 autosomal recessive
External Ophthalmoplegia, Progressive, with mtDNA Deletions, AR 4 DGUOK PEOB4, progressive external ophthalmoplegia autosomal recessive 4 617070 autosomal recessive
Eye Movement Disorders with CACNA1A Mutations CACNA1A 601011 autosomal dominant
F
Disorder Name Genes Alternate Names OMIM Inheritance
Fabry Disease GLA alpha-galactosidase A deficiency, GLA deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum, hereditary dystopic lipodosis, Anderson-Fabry disease 301500 X-linked dominant
Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction TUBB6 FPVEPD 617732 autosomal dominant
Familial Acorea, Microphthalmia and Cataract Syndrome ? autosomal dominant
Familial Exudative Vitreoretinopathy, EVR1 FZD4 FEVR, Criswick-Schepens syndrome, exudative vitreoretinopathy, EVR1 133780 autosomal dominant
Familial Exudative Vitreoretinopathy, EVR2 NDP FEVRX, X-linked FEVR, EVR2 305390 X-linked recessive
Familial Exudative Vitreoretinopathy, EVR3 ? EVR3 605750 autosomal dominant
Familial Exudative Vitreoretinopathy, EVR4 LRP5 FEVR, Criswick-Schepens syndrome, exudative vitreoretinopathy, EVR4 601813 autosomal dominant
Familial Exudative Vitreoretinopathy, EVR5 TSPAN12 EVR5 613330 autosomal recessive, autosomal dominant
Familial Exudative Vitreoretinopathy, EVR6 ZNF408 EVR6, FEVR6 616468 autosomal dominant
Familial Exudative Vitreoretinopathy, EVR7 CTNNB1 EVR7, FEVR7 617572 autosomal dominant
Familial Internal Retinal Membrane Dystrophy ? dominantly inherited Muller cell sheen dystrophy, Muller cell sheen dystrophy autosomal dominant
Feingold Syndrome 1 MYCN FGLDS1, ODED syndrome, oculodigitoesophagoduodenal syndrome, MMT syndrome, FS1 164280 autosomal dominant
Fibrosis of Extraocular Muscles with Synergistic Divergence ? congenital fibrosis syndrome with synergistic divergence, external ophthalmoplegia with synergistic divergence 609612 autosomal dominant
Fibrosis of Extraocular Muscles, CFEOM1 KIF21A congenital ophthalmoplegia, restrictive strabismus, absence of eye movements with blepharoptosis, CFEOM1, CFEOM3B 135700 autosomal dominant
Fibrosis of Extraocular Muscles, CFEOM2 PHOX2A congenital ophthalmoplegia, restrictive strabismus, CFEOM2 602078 autosomal recessive
Fibrosis of Extraocular Muscles, CFEOM3C chromosomal congenital fibrosis of extraocular muscles 3C 609384 autosomal dominant
Fibrosis of Extraocular Muscles, CFEOM5 COL25A1 CFEOM5, congenital cranial dysinnervation disorder 616219 autosomal recessive
Fibrosis of Extraocular Muscles, Tukel CFEOM Syndrome 21qter locus Tukel CFEOM 609428 autosomal recessive?
Filippi Syndrome CKAP2L FLPIS, Scott craniodigital syndrome with mental retardation, type I syndactyly with microcephaly and mental retardation 272440 autosomal recessive
Fleck Retina of Kandori ? 228990 ?
Fleck Retina, Benign Familial PLA2G5 FRFB 228980 autosomal recessive
Flecked Retina Syndromes RDS, RDH5, RLBP1 136880, 228980, 248200, 228900, 210370, 259900 autosomal recessive, autosomal dominant
Focal Dermal Hypoplasia PORCN FDH, DHOF, Goltz syndrome, Goltz-Gorlin syndrome 305600 X-linked dominant
Foveal Hypoplasia 1 PAX6, SLC38A8 O'Donnell-Pappas syndrome, FVH1 136520 autosomal dominant
Foveal Hypoplasia 2 SLC38A8 FVH2, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 autosomal recessive
Foveal Hypoplasia and Anterior Chamber Dysgenesis 16q23.2-24.2 locus foveal hypoplasia and anterior segment dysgenesis, FHASD 609218 autosomal recessive?
Fraser Syndrome 1 FRAS1 cryptophthalmos-syndactyly syndrome, FRASRS1 219000 autosomal recessive
Fraser Syndrome 2 FREM2 FRASRS2 617666 autosomal recessive
Fraser Syndrome 3 GRIP1 FRASRS3 617667 autosomal recessive
Friedreich Ataxia 1 FXN FRDA, FRDA1, FA 229300 autosomal recessive
Fructose Intolerance ALDOB fructosemia, aldolase deficiency, hereditary fructose intolerance 229600 autosomal recessive
Fucosidosis FUCA1 alpha-L-fucosidase deficiency 230000 autosomal recessive
Fundus Albipunctatus RDH5, RLBP1, PRPH2 retinitis punctata albescens 136880 autosomal recessive, autosomal dominant
G
Disorder Name Genes Alternate Names OMIM Inheritance
Gabriele-de Vries Syndrome YY1 GADEVS 617557 autosomal dominant
Galactokinase Deficiency GALK1 GALK deficiency, galactosemia II 230200 autosomal recessive
Galactose Epimerase Deficiency GALE GALE deficiency, galactosemia III 230350 autosomal recessive
Displaying 241 - 280 of 695