| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (TANGO2 / C22orf25) | Cognitive impairment | Autosomal Recessive | 22q11.21 | Substitution | TANGO2 / C22orf25 | c.353G>T | p.Gly118Val | Missense | S Riazuddin et al., 2016/2016 |
| Intellectual Disability, Nonsyndromic (TANGO2 / C22orf25) | Intellectual disability, seizures and difficulties in coordinating voluntary movements (ataxia), an unsteady gait and speech difficulties (dysarthria). | Autosomal Recessive | 22q11.21 | Splice site variant | TANGO2 / C22orf25 | c.605+1G>A | - | - | Hussain et. al. 2023/2023 |
