| Disease ID | Source | Name | Description |
| 616393 | OMIM | Mental retardation, autosomal dominant 38 (MRD38) | A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. The disease is caused by variants affecting the gene represented in this entry. |
| 616409 | OMIM | Developmental and epileptic encephalopathy 33 (DEE33) | 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. The disease is caused by variants affecting the gene represented in this entry. |