Seizures, scoliosis, and macrocephaly syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME | C4225248 | EXT2 | Causal Pathogenic evidence from ClinVar | 12417417, 26246518, 27604308, 30075207 | ClinVar |
| Seizures-scoliosis-macrocephaly syndrome | 466926 | EXT2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |