| Disease ID | Source | Name | Description |
| 614306 | OMIM | Cognitive impairment with or without cerebellar ataxia (CIAT) | A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. The disease is caused by variants affecting the gene represented in this entry. |
| 614558 | OMIM | Developmental and epileptic encephalopathy 13 (DEE13) | A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. The disease is caused by variants affecting the gene represented in this entry. |
| 617080 | OMIM | Seizures, benign familial infantile, 5 (BFIS5) | A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 618364 | OMIM | Myoclonus, familial, 2 (MYOCL2) | An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life. The disease may be caused by variants affecting the gene represented in this entry. |