OBO ID: DOID:0111814
Term Name: methylmalonic acidemia and homocysteinemia cblX type Search Ontology:
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
is a type of:
OTHER methylmalonic acidemia and homocysteinemia cblX type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HCFC1 Methylmalonic aciduria and homocysteinemia, cblX type 309541
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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