Microcephaly, short stature, and polymicrogyria with or without seizures
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES | C3553831 | RTTN | Causal Pathogenic evidence from ClinVar | 22939636, 26608784, 29967526 | ClinVar |
| MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | C4225499 | RTTN | Causal Pathogenic evidence from ClinVar | 22939636 | ClinVar |