| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polymicrogyria Fetal (KBP) | malformation of cortical development | Autosomal Recessive | 10q22.1 | Deletion | KBP | Deletion of exon 2, 3 | Asn143fs*1 | Frame shift mutation & PTC | 0/Valence et al., 2013 |
