| Disease ID | Source | Name | Description |
| 618276 | OMIM | Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) | An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur. The disease is caused by variants affecting the gene represented in this entry. |