| Disease ID | Source | Name | Description |
| 618056 | OMIM | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) | An autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients. The disease is caused by variants affecting the gene represented in this entry. |
| 614498 | OMIM | Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) | A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life. The disease is caused by variants affecting the gene represented in this entry. |