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Disease Ontology Browser
multiple mitochondrial dysfunctions syndrome 9B (DOID:0070736)
Alliance: disease page
Synonyms: MMDS9B
Alt IDs: OMIM:620887, ORDO:543470, UMLS_CUI:C5681321, UMLS_CUI:C5935635
Definition: A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
05/26/2026
MGI 6.24 		The Jackson Laboratory