Human genes for methylmalonic acidemia and homocysteinemia cblX type
Methylmalonic acidemia and homocysteinemia cblX type [DOID:0111814]
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 HCFC1 on chromosome Xq28.
Synonyms: methylmalonic acidemia and homocysteinemia cblX type, DOID:0111814, methylmalonic acidemia and homocysteinemia cblX types, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, mental retardation, X-linked 3 ...