| Disease ID | Source | Name | Description |
| 617800 | OMIM | Microcephaly 19, primary, autosomal recessive (MCPH19) | 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. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination. The disease may be caused by variants affecting the gene represented in this entry. |