| Disease ID | Source | Name | Description |
| 617330 | OMIM | Hypotonia, ataxia, and delayed development syndrome (HADDS) | An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux. The disease is caused by variants affecting the gene represented in this entry. |