| Disease ID | Source | Name | Description |
| 616801 | OMIM | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) | An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures. The disease is caused by variants affecting the gene represented in this entry. |