| Disease ID | Source | Name | Description |
| 616681 | OMIM | Microcephaly 16, primary, autosomal recessive (MCPH16) | 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. The disease is caused by variants affecting the gene represented in this entry. |