| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (TSHR) | Cognitive impairment | Autosomal Recessive | 14q31.1 | Substitution | TSHR | c.2285C>T | p.Thr762Met | Missense | S Riazuddin et al., 2016/2016 |
