| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (GPR56) | abnormal cortical lamination, ID etc | Autosomal recessive | 16q21 | Missense Mutation | GPR56 | 1460T>C | Leu487Pro | Amino Acid Substitution | 0/Sawal et al., 2018 |
| Intellectual Disability (GPR56) | abnormal cortical lamination, ID etc | Autosomal Recessive | 16q21 | Frameshift Mutation | GPR56 | 803_804insCCATGGAGGTGCT | Leu269Hisfs21 | Insertion Mutation and PTC | 0/Sawal et al.,,2018 |
| Intellectual Disability (GPR56) | abnormal cortical lamination, ID etc | Autosomal Recessive | 16q21 | Missense Mutation | GPR56 | 1426C>T | Arg476 | Missense Mutation and PTC | 0/Sawal et al.,,2018 |
