| Disease ID | Source | Name | Description |
| 614749 | OMIM | Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) | An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. The disease is caused by variants affecting the gene represented in this entry. |