fatal multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome 9b https://github.com/monarch-initiative/mondo/issues/8967 https://www.malacards.org/card/multiple_mitochondrial_dysfunctions_syndrome_9b GARD:0027208 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. UMLS:C5935635 MEDGEN:1860851 OMIM:620887 MONDO:0971174 FDXR-related optic atrophy mitochondrial dysfunction syndrome