Intellectual developmental disorder with macrocephaly, seizures, and speech delay
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | C4748428 | PAK1 | Causal Pathogenic evidence from ClinVar | 30290153, 31504246 | ClinVar |