| Disease ID | Source | Name | Description |
| 617520 | OMIM | Microcephaly 18, primary, autosomal dominant (MCPH18) | A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH18 affected individuals manifest microcephaly with mild to moderate intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |