Masa syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MASA syndrome | 2466 | L1CAM | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| MASA SYNDROME (disorder) | C0795953 | L1CAM | Causal Pathogenic evidence from ClinVar | 3460961, 7562969, 7762552, 7881431, 7920659, 7920660, 8556302, 9268105, 9300653, 9452110, 9521424, 9744477, 9832035, 10797421, 10805190, 11438988, 11857550, 16816908, 19565280, 19846429, 22344793, 22973895, 24155914, 26891472 | ClinVar |