| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (TM2D3) | Cognitive impairment | Autosomal Recessive | 15q26.3 | Substitution | TM2D3 | c.677C>T | p.Thr226Met | Missense | S Riazuddin et al., 2016/2016 |
