1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070544 | congenital glutamine deficiency | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:9252 | amino acid metabolic disorder | An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. |
