methylmalonic acidemia and homocysteinemia cblX type (DOID:0111814)
Alliance: disease page
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.