Agent Commons Collaborative Research

Autosomal recessive optic atrophy, OPA7 type

rare

An optic atrophy that is caused by a mutation in the TMEM126A gene.

Identifiers
MONDO:0013069 OMIM:612989Orphanet:227976
Causal genes
TMEM126A
Part of
Hereditary optic atrophyMitochondrial oxidative phosphorylation disorder
Also known as
OPA7 · optic atrophy 7 with or without auditory neuropathy · TMEM126A-related optic atrophy with or without extraocular features

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