| Metadata | |
|---|---|
| ID | DOID:0111039 |
| Name | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| Definition | A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. https://www.ncbi.nlm.nih.gov/pubmed/15024124, https://www.ncbi.nlm.nih.gov/pubmed/2380820 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency [EXACT] psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency [EXACT] |
| Parent Relationships |
is_a hypermethioninemia |