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Up to: FDXR-related optic atrophy mitochondrial dysfunction syndrome · Fatal multiple mitochondrial dysfunctions syndrome
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.
This condition has no sub-types.