| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (WDR62) | Cognitive impairment | Autosomal Recessive | 19q13.12 | Substitution | WDR62 | c.2520+1G>T | p.Leu840Leufs*95 | Aberrant splicing | S Riazuddin et al., 2016/2016 |
| Intellectual Disability, Nonsyndromic (WDR62) | Cognitive impairment | Autosomal Recessive | WDR62 | c.G1531C | p.D511H | Missense | Jamshed Khan, et al. 2019/2019 |
