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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.
50 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
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Inherited lipid metabolism disorder
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Inborn mitochondrial metabolism disorder
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Inborn errors of metabolism
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Mitochondrial disease
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Human disease
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Developmental defect during embryogenesis
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Inherited fatty acid metabolism disorder
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