| Disease ID | Source | Name | Description |
| 618879 | OMIM | Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) | An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, delayed motor skills, poor or absent speech, and epilepsy in most patients. Some patients manifest facial dysmorphism. Disease onset is in infancy. The disease is caused by variants affecting the gene represented in this entry. |