FDXR-related optic atrophy mitochondrial dysfunction syndrome

Findings

No curated finding names FDXR-related optic atrophy mitochondrial dysfunction syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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

• hereditary disease
• mitochondrial disease

Narrower terms (3)

• auditory neuropathy-optic atrophy syndrome
• multiple mitochondrial dysfunctions syndrome 9b
• optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome