Microcephaly, seizures, and developmental delay
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | C3150667 | PNKP | Causal Pathogenic evidence from ClinVar | 20118933, 25728773, 27232581, 30039206 | ClinVar |