| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Microcephaly (KIF14) | Reduced cerebral cortex with ID | Autosomal Recessive | 1q32.1 | Deletion | KIF14 | 2482delTTG | Val827de | Amino Acid Deletion | 0/Moawia et al., 2017 |
| Microcephaly (KIF14) | c cortex with ID | Autosomal Recessive | 1q32.1 | Nonsense | KIF14 | 263T>A | Leu88* | PTC | 0/Moawia et al., 2017 |
