| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Microcephaly(TLE1) | orofacial dyskinesia,spastic quadriplegia | Autosomal Recessive | 9q21.32 | Missense Mutation | TLE1 | 1651G>A | Asp541Asn | Amino acid substitution | Cavallin M et.al.,,, 2018/ |
