| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hyperinsulinemic Hypoglycemia F 4 (HADH) | Inappropriately elevated insulin secretion | Autosomal Recessive | 4q25 | Splice site | HADH | CAGGTCdel at SAS | 183?212del | Frame shift mutation | 0/Molven et al., 2004 |
