auditory neuropathy-optic atrophy syndrome
A 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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:1060116
FDXR-related optic atrophy mitochondrial dysfunction syndrome
is_a
ANOA
exact
auditory neuropathy and optic atrophy
exact
multiple mitochondrial dysfunctions syndrome 9A
exact
SPBC3B8.01c