| Disease ID | Source | Name | Description |
| 618351 | OMIM | Microcephaly 25, primary, autosomal recessive (MCPH25) | 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. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging. The disease is caused by variants affecting the gene represented in this entry. |