| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (TMEM67) | Cognitive impairment | Autosomal Recessive | 8q22.1 | Substitution | TMEM67 | c.274G>A | p.Gly92Arg | Missense | S Riazuddin et al., 2016/2016 |
