| Disease ID | Source | Name | Description |
| 615419 | OMIM | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) | A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies. The disease is caused by variants affecting the gene represented in this entry. |
| 616266 | OMIM | Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) | A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay. The disease is caused by variants affecting the gene represented in this entry. |