| Disease ID | Source | Name | Description |
| 616816 | OMIM | Hypotonia, infantile, with psychomotor retardation (IHPMR) | An autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects. The disease is caused by variants affecting the gene represented in this entry. |