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Summary Literature (0)
DOID:0111814 - methylmalonic acidemia and homocysteinemia cblX type

Disease Ontology 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.

Synonyms: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, mental retardation, X-linked 3, methylmalonic aciduria with homocystinuria, type cblX

Xenbase Genes : gdi1, hcfc1


MIM:
MIM:309541 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE; MAHCX

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): methylmalonic acidemia (is_a), X-linked recessive disease (is_a)