| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (FMOD) | Cognitive impairment | Autosomal Recessive | 1q32.1 | Substitution | FMOD | c.506G>A | p.Arg169Gln | Missense | S Riazuddin et al., 2016/2016 |
