| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polymicrogyria with Optic Nerve Hypoplasia (TUBA8) | malformation of the cerebral cortex | Autosomal Recessive | 22q11.2 | Deletion | TUBA8 | 11 bp deletion | 0/Abdollahi et al., 2009 |
