|OBO ID: DOID:0111038|
|Term Name:||hypermethioninemia due to adenosine kinase deficiency||Search Ontology:|
|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. (2)|
|Ontology:||Human Disease (DOID:0111038)|
OTHER hypermethioninemia due to adenosine kinase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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