| Disease ID | Source | Name | Description |
| 617643 | OMIM | Cerebellar atrophy, developmental delay, and seizures (CADEDS) | An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry. |
| 609446 | OMIM | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) | An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both. The disease is caused by variants affecting the gene represented in this entry. |
| 618729 | OMIM | Liang-Wang syndrome (LIWAS) | An autosomal dominant syndrome characterized by a highly variable phenotype and severity. The broad spectrum of clinical features includes developmental delay, intellectual disability, ataxia, axial hypotonia, and poor or absent speech, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic craniofacial dysmorphism. About half of patients have cerebral and cerebellar atrophy, and thin corpus callosum. The disease is caused by variants affecting the gene represented in this entry. |
| 618596 | OMIM | Epilepsy, idiopathic generalized 16 (EIG16) | An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG16 is characterized by onset of seizures soon after birth or in the first years of life. Disease susceptibility is associated with variants affecting the gene represented in this entry. |