label: multiple mitochondrial dysfunctions syndrome 9b
label_lc: multiple mitochondrial dysfunctions syndrome 9b
description: 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.