| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (POMT2) | Cognitive impairment | Autosomal Recessive | 14q24.3 | Substitution | POMT2 | c.881A>G | p.Tyr294Cys | Missense | S Riazuddin et al., 2016/2016 |
