| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (DPH1) | Cognitive impairment | Autosomal Recessive | 17p13.3 | Substitution | DPH1 | c.1144C>T | p.(Pro328Ser) | Missense | S Riazuddin et al., 2016/2016 |
