| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Hypopituitarism (TSHR) | Severe thyroid hypoplasia | Autosomal Recessive | 14q31 | Missense | TSHR | 1657G>C | Ala553Thr | Amino Acid Substitution | 0/Cangul et al., 2010 |
