Costeff optic atrophy syndrome
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OPA3 — Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Identifiers Symbols OPA3; FLJ22187; FLJ25932; MGA3; MGC75494 External IDs … Wikipedia
3-Methylglutaconic aciduria — Classification and external resources 3 methylglutaconic acid DiseasesDB … Wikipedia
3-methylglutaconicaciduria type III — an autosomal recessive neuroophthalmologic syndrome caused by mutation in the OPA3 gene (locus: 19q13.2 q13.3), which encodes a ubiquitously expressed protein of unknown function. It is characterized by early onset optic atrophy and later… … Medical dictionary
