| Metadata | |
|---|---|
| ID | DOID:0111814 |
| Name | methylmalonic acidemia and homocysteinemia cblX type |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/23000143, https://www.ncbi.nlm.nih.gov/pubmed/24011988 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX [EXACT] mental retardation, X-linked 3 [EXACT] methylmalonic aciduria with homocystinuria, type cblX [EXACT] |
| Parent Relationships |