| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (FLNA) | Cognitive impairment | X Linked | FLNA | Substitution | FLNA | c.5054C>T | p.Thr1685Met | Missense | S Riazuddin et al., 2016/2016 |
