| Term Name: | auditory neuropathy and optic atrophy |
|---|---|
| Synonyms: | MMDS9A, multiple mitochondrial dysfunctions syndrome 9A |
| Definition: | A multiple mitochondrial dysfunctions syndrome characterized by bilateral auditory neuropathy and optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. |
| Ontology: | Human Disease [DOID:0070735] ( DOID:0070735 ) |