| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH9 (CEP152) | Microcephaly | Autosomal Recessive | 15q21.1 | Missense | CEP152 | 3149T>C | Leu1050Pro | Amino Acid Substitution | 2013/Hussain et al., 2013 |
| MCPH9 (CEP152) | Microcephaly | Autosomal Recessive | 15q21.1 | Deletion | CEP152 | 3676-3678delAAC | Asn1226del | Frame shift mutation | 2013/Hussain et al., 2013 |
