| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (TMEM222) | Cognitive impairment | Autosomal Recessive | 1p36.11 | Substitution | TMEM222 | c.214G>A | p.Gly72Ser | Missense | S Riazuddin et al., 2016/2016 |
