| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (PGAP2) | Cognitive impairment | Autosomal Recessive | 11p15.4 | Substitution | PGAP2 | 530G>C | Arg177Pro | Missense | 0/Hansen et al., 2013 |
