| Disease ID | Source | Name | Description |
| 607596 | OMIM | Pontocerebellar hypoplasia 1A (PCH1A) | A disorder characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth. The disease is caused by variants affecting the gene represented in this entry. |