/autosomal recessive optic atrophy, OPA7 type

autosomal recessive optic atrophy, OPA7 type

Rare Disease

MONDO:0013069

Also Known As

TMEM126A-related optic atrophy with or without extraocular featuresoptic atrophy 7OPA7optic atrophy 7 with or without auditory neuropathy

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

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

mitochondrial respiratory chain complex deficiency

MONDO:0000066

combined oxidative phosphorylation deficiency

MONDO:0000732

myopathy, lactic acidosis, and sideroblastic anemia

MONDO:0000863

optic atrophy 3

MONDO:0008133

autosomal dominant optic atrophy, classic form

MONDO:0008134

optic atrophy 13 with retinal and foveal abnormalities

MONDO:0008135