| Disease ID | Source | Name | Description |
| 618273 | OMIM | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) | An autosomal dominant neurodevelopmental disorder with onset in infancy. MCCCHCM is characterized by global developmental delay, impaired intellectual development, poor or absent speech, unsteady gait, ataxia, inability to walk, and variable brain abnormalities. Seizures and autistic features are observed in some patients. Brain imaging findings include an enlarged corpus callosum in the absence of megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral abnormalities, and cortical malformations. The disease is caused by variants affecting the gene represented in this entry. |