| Disease ID | Source | Name | Description |
| 604317 | OMIM | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) | A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures. The disease is caused by variants affecting the gene represented in this entry. |