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Disease Ontology Browser
multiple mitochondrial dysfunctions syndrome 7 (DOID:0070733)
Alliance: disease page
Synonyms: MMDS7
Alt IDs: OMIM:620423, UMLS_CUI:C5830586
Definition: A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23.

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