| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (PGAP1) | Cognitive impairment | Autosomal Recessive | 2q33.1 | Substitution | PGAP1 | c.2276A>G | p.Tyr759Cys | Missense | S Riazuddin et al., 2016/2016 |
