| Disease ID | Source | Name | Description |
| 617983 | OMIM | Microcephaly 21, primary, autosomal recessive (MCPH21) | 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. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly. The disease is caused by variants affecting the gene represented in this entry. |