Conditions / Genetic
auditory neuropathy and optic atrophy
info · Genetic
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.
Signs and symptoms
- Hearing impairment
- Optic atrophy
- Visual impairment
- Nystagmus
- Rod-cone dystrophy
Also known as: MMDS9A; multiple mitochondrial dysfunctions syndrome 9A