| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Isolated growth hormone deficiency - type IV (IGHD) | Short stature without gross skeletal anomalies and significantly reduced serum GH levels | Autosomal Recessive | 7p14.3 | Substitution | GHRHR | c.G214T | p.(Glu72*) | Nonsense | Ahmad et al., 2023/2023 |
