| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Hypopituitarism (LHX4) | Lethal form of hypopituitarism | Autosomal Recessive | 1q25.2 | Missense | LHX4 | 377C>T | Thr126Met | Amino Acid Substitution | 0/Gregory et al., 2015 |
