| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (ADGRG1) | Intellectual Disability | Autosomal Recessive | 16q21 | Delation | ADGRG1 | c.738del | p.(Gln247Argfs*76 | Frameshift | Pastore et al., 2021/2021 |
