| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (FRAS1) | Cognitive impairment | Autosomal Recessive | 4q21.21 | Substitution | FRAS1 | c.1099C>T | p.Arg367Cys | Missense | S Riazuddin et al., 2016/2016 |
