| Disease ID | Source | Name | Description |
| 615716 | OMIM | Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) | An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. The disease is caused by variants affecting the gene represented in this entry. |