Multiple mitochondrial dysfunctions syndrome 9b
MONDO:0971174A 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.
Follow this condition — get notified about new trialsBroader categories
Disease
(680)
Metabolic disease
(233)
Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Inborn mitochondrial metabolism disorder
(58)
Inborn errors of metabolism
(45)
Mitochondrial disease
(40)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Inherited fatty acid metabolism disorder
(7)