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| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (PRSS12) | Cognitive impairment | Autosomal Recessive | 4q26 | Not Identified | PRSS12 | Not Identified | NA | Not Identified | 2011/Ali et al., 2011 |