| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cerebral Palsy Syndrome (AP4M1) | Paraplegic CP with intellectual disability | Autosomal Recessive | 7q22.1 | Deletion | AP4M1 | 194_195delAT | Lys65Phefs*50 | Frame shift mutation & PTC | Jameel et al., 2014/2014 |
