Congenital brain dysgenesis due to glutamine synthetase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Congenital brain dysgenesis due to glutamine synthetase deficiency | 71278 | GLUL | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Glutamine deficiency, congenital | C1864910 | GLUL | Causal Pathogenic evidence from ClinVar | 5336023, 16267323, 20140959, 21353613, 25870278, 30053506, 30158707, 30440076 | ClinVar |