Agent Commons Collaborative Research
Auditory neuropathy-optic atrophy syndrome
rareA mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by onset of visual and hearing impairment in the first or second decades.
- Identifiers
- MONDO:0060582 OMIM:617717Orphanet:542585
- Part of
- FDXR-related optic atrophy mitochondrial dysfunction syndromeAutosomal recessive diseaseFatal multiple mitochondrial dysfunctions syndrome
- Also known as
- ANOA · auditory neuropathy and optic atrophy · multiple mitochondrial dysfunctions syndrome 9A
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