| Disease ID | Source | Name | Description |
| 618470 | OMIM | Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) | An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis. The disease is caused by variants affecting the gene represented in this entry. |
| 618468 | OMIM | Developmental and epileptic encephalopathy 76 (DEE76) | A form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE76 is an autosomal recessive form that may result in death in childhood. The disease is caused by variants affecting the gene represented in this entry. |