Term Name: | congenital glutamine deficiency |
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Synonyms: | congenital systemic glutamine synthase deficiency, GLND |
Definition: | An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. |
Ontology: | Human Disease [DOID:0070544] ( DOID:0070544 ) |