| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (SOX4) | Severe ID, hypotonia, and developmental delay | Autosomal Recessive | 6p22.3 | Deletion | SOX4 | c.730_753del | p.(Ala244_Gly251del) | Entire aa deletion | Ghaffar et al., 2022/2022 |
