| Disease ID | Source | Name | Description |
| 616900 | OMIM | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) | An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals. The disease is caused by variants affecting the gene represented in this entry. |