| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mabry Syndrome (PGAP3) | Hyperphosphatasia with MR | Autosomal Recessive | 17q11.2?q21.32 | Missense | PGAP3 | 275G>A | Gly92Asp | Amino Acid Substitution | Howard et al., 2014/2014 |
