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Human Disease

methylmalonic acidemia and homocysteinemia cblX type

Term ID
DOID:0111814
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. (2)
References
Ontology
Human Disease   ( DOID:0111814 )
Relationships
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Genes Involved
Zebrafish Models