| Disease ID | Source | Name | Description |
| 618292 | OMIM | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA) | An autosomal recessive disease characterized by global developmental delay, hypotonia, ataxic gait, hyporeflexia, poor or absent speech, and variable and mild dysmorphic features. The disease is caused by variants affecting the gene represented in this entry. |