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 )

Relationships
is a type of: autosomal recessive disease multiple mitochondrial dysfunctions syndrome optic nerve disease vestibulocochlear nerve disease