Term Name:	methylmalonic acidemia and homocysteinemia cblX type
Synonyms:	combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, mental retardation, X-linked 3, methylmalonic aciduria with homocystinuria, type cblX
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.
Ontology:	Human Disease [DOID:0111814]   ( DOID:0111814 )