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methylmalonic acidemia and homocysteinemia cblX type (DOID:0111814)
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Synonyms: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX; mental retardation, X-linked 3; methylmalonic aciduria with homocystinuria, type cblX
Alt IDs: OMIM:309541, ORDO:369962
Definition: A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28.

Disease References using Mouse Models (1)
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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12/10/2024
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