Term Name: | hypermethioninemia due to adenosine kinase deficiency |
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Synonyms: | ADK hypermethioninemia, autosomal recessive mental retardation 8, hypermethioninemia encephalopathy due to adenosine kinase deficiency, hypermethioninemia encephalopathy due to ADK deficiency, MRT8 |
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. |
Ontology: | Human Disease [DOID:0111038] ( DOID:0111038 ) |