| Disease ID | Source | Name | Description |
| 614833 | OMIM | Microcephaly, short stature, and polymicrogyria with or without seizures (MSSP) | A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. MSSP patients have moderate to severe mental retardation, poor speech, dysarthria and seizures. The disease is caused by variants affecting the gene represented in this entry. |