Human genes for hypermethioninemia due to adenosine kinase deficiency
Hypermethioninemia due to adenosine kinase deficiency [DOID:0111038]
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.
Synonyms: hypermethioninemia due to adenosine kinase deficiency, DOID:0111038, hypermethioninemia due to adenosine kinase deficiencies, ADK hypermethioninemia, autosomal recessive mental retardation 8 ...