| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (SYNE1) | Cognitive impairment | Autosomal Recessive | 6q25.2 | Substitution | SYNE1 | c.939G>C | p.Lys313Asn | Missense | S Riazuddin et al., 2016/2016 |
