multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.
MONDO:0017338
fatal multiple mitochondrial dysfunctions syndrome
is_a
MONDO:1060116
FDXR-related optic atrophy mitochondrial dysfunction syndrome
is_a
SPBC3B8.01c