| Metadata | |
|---|---|
| ID | DOID:0111038 |
| Name | hypermethioninemia due to adenosine kinase deficiency |
| Definition | A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/17120046, https://www.ncbi.nlm.nih.gov/pubmed/21963049 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ADK hypermethioninemia [EXACT] autosomal recessive mental retardation 8 [EXACT] hypermethioninemia encephalopathy due to adenosine kinase deficiency [EXACT] hypermethioninemia encephalopathy due to ADK deficiency [EXACT] MRT8 [EXACT] |
| Parent Relationships |
is_a hypermethioninemia |