| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MSS51 / ZMYND17) | Cognitive impairment | Autosomal Recessive | 10q22.2 | Substitution | MSS51 / ZMYND17 | c.173C>T | p.Ser58Leu | Missense | S Riazuddin et al., 2016/2016 |
