| Disease ID | Source | Name | Description |
| 615828 | OMIM | Vulto-van Silfout-de Vries syndrome (VSVS) | An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances. The disease is caused by variants affecting the gene represented in this entry. |
| 617171 | OMIM | Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures (NEDHELS) | An autosomal recessive disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. The disease is caused by variants affecting the gene represented in this entry. |