| Disease ID | Source | Name | Description |
| 617903 | OMIM | Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) | An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |
| 617904 | OMIM | Developmental and epileptic encephalopathy 59 (DEE59) | A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy. The disease is caused by variants affecting the gene represented in this entry. |