autosomal dominant optic atrophy plus syndrome

Findings

No curated finding names autosomal dominant optic atrophy plus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal dominant optic atrophy
• mitochondrial disease

Narrower terms (4)

• cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
• optic atrophy 8
• optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
• optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant

Resolves to: autosomal dominant optic atrophy plus syndrome

Also called

DOA+optic atrophy type 8optic atrophy-deafness-polyneuropathy-myopathy syndrome