| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (BDH1) | Autosomal Recessive | 3q29 | Substitution | BDH1 | c.382 C>T | p.Arg128Cys | Missense | Rasool et al., 2023/2023 |
