| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| schizophrenia,hearing impairment & epilepsy | schizophrenia,hearing impairment&epilepsy | Autosomal Recessive | 22q12.3?q13.3 & 2p24.3 | Knight et al., 2008/2008 |
