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.

14 clinical trials for this condition and its sub-types, 0 tagged with Multiple mitochondrial dysfunctions syndrome 9b itself.