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Human Disease
methylmalonic acidemia and homocysteinemia cblX type
- Term ID
- DOID:0111814
- Synonyms
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- 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. (2)
- References
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- MIM:309541
- ORDO:369962
- Ontology
- Human Disease ( DOID:0111814 )
- is a type of
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