Term Name:	multiple mitochondrial dysfunctions syndrome 9B
Synonyms:	MMDS9B
Definition:	A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25.
Ontology:	Human Disease [DOID:0070736]   ( DOID:0070736 )