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methylmalonic acidemia and homocysteinemia cblX type
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease methylmalonic acidemia
External Links
- Disease Ontology
- DOID:0111814
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
