| Disease ID | Source | Name | Description |
| 605013 | OMIM | Microhydranencephaly (MHAC) | A severe neurodevelopmental disorder characterized by microcephaly, severe motor and mental retardation, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. The disease is caused by variants affecting the gene represented in this entry. |
| 614019 | OMIM | Lissencephaly 4 (LIS4) | A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation. The disease is caused by variants affecting the gene represented in this entry. |