Disorders: F

Disorders Alternate Names Genes Inheritance Pattern
Fabry Disease alpha-galactosidase A deficiency, Anderson-Fabry disease, angiokeratoma corporis diffusum, ceramide trihexosidase deficiency, GLA deficiency, hereditary dystopic lipodosis GLA X-linked dominant
Familial Acorea, Microphthalmia and Cataract Syndrome ? autosomal dominant
Familial Exudative Vitreoretinopathy, EVR1 Criswick-Schepens syndrome, EVR1, exudative vitreoretinopathy, FEVR FZD4 autosomal dominant
Familial Exudative Vitreoretinopathy, EVR2 EVR2, FEVRX, X-linked FEVR NDP X-linked recessive
Familial Exudative Vitreoretinopathy, EVR3 EVR3 ? autosomal dominant
Familial Exudative Vitreoretinopathy, EVR4 Criswick-Schepens syndrome, EVR4, exudative vitreoretinopathy, FEVR LRP5 autosomal dominant
Familial Exudative Vitreoretinopathy, EVR5 EVR5 TSPAN12 autosomal dominant, autosomal recessive
Familial Exudative Vitreoretinopathy, EVR6 EVR6, FEVR6 ZNF408 autosomal dominant
Familial Exudative Vitreoretinopathy, EVR7 EVR7, FEVR7 CTNNB1 autosomal dominant
Familial Internal Retinal Membrane Dystrophy dominantly inherited Muller cell sheen dystrophy, Muller cell sheen dystrophy ? autosomal dominant
Feingold Syndrome 1 FGLDS1, FS1, MMT syndrome, oculodigitoesophagoduodenal syndrome, ODED syndrome MYCN autosomal dominant
Fibrosis of Extraocular Muscles with Synergistic Divergence congenital fibrosis syndrome with synergistic divergence, external ophthalmoplegia with synergistic divergence ? autosomal dominant
Fibrosis of Extraocular Muscles, CFEOM1 absence of eye movements with blepharoptosis, CFEOM1, CFEOM3B, congenital ophthalmoplegia, restrictive strabismus KIF21A autosomal dominant
Fibrosis of Extraocular Muscles, CFEOM2 CFEOM2, congenital ophthalmoplegia, restrictive strabismus PHOX2A autosomal recessive
Fibrosis of Extraocular Muscles, CFEOM3C congenital fibrosis of extraocular muscles 3C chromosomal autosomal dominant
Fibrosis of Extraocular Muscles, CFEOM5 CFEOM5, congenital cranial dysinnervation disorder COL25A1 autosomal recessive
Fibrosis of Extraocular Muscles, Tukel CFEOM Syndrome Tukel CFEOM 21qter locus autosomal recessive?
Filippi Syndrome FLPIS, Scott craniodigital syndrome with mental retardation, type I syndactyly with microcephaly and mental retardation CKAP2L autosomal recessive
Fleck Retina of Kandori ? ?
Fleck Retina, Benign Familial FRFB PLA2G5 autosomal recessive
Flecked Retina Syndromes RDH5, RDS, RLBP1 autosomal dominant, autosomal recessive
Focal Dermal Hypoplasia DHOF, FDH, Goltz syndrome, Goltz-Gorlin syndrome PORCN X-linked dominant
Foveal Hypoplasia 1 FVH1, O'Donnell-Pappas syndrome PAX6, SLC38A8 autosomal dominant
Foveal Hypoplasia 2 foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, FVH2 SLC38A8 autosomal recessive
Foveal Hypoplasia and Anterior Chamber Dysgenesis FHASD, foveal hypoplasia and anterior segment dysgenesis 16q23.2-24.2 locus autosomal recessive?
Fraser Syndrome 1 cryptophthalmos-syndactyly syndrome, FRASRS1 FRAS1 autosomal recessive
Fraser Syndrome 2 FRASRS2 FREM2 autosomal recessive
Fraser Syndrome 3 FRASRS3 GRIP1 autosomal recessive
Friedreich Ataxia 1 FA, FRDA, FRDA1 FXN autosomal recessive
Fructose Intolerance aldolase deficiency, fructosemia, hereditary fructose intolerance ALDOB autosomal recessive
Fucosidosis alpha-L-fucosidase deficiency FUCA1 autosomal recessive
Fundus Albipunctatus retinitis punctata albescens PRPH2, RDH5, RLBP1 autosomal dominant, autosomal recessive