| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Syndromic Intellectual Disability and Primary Microcephaly (TTL2) | Cognitive impairment | Autosomal Recessive | Insertion | TTL2 | c.21_22insAAGCGCTCTG | (p.Glu8Lysfs?×?12) | Frameshift | Z Qarnain et al., 2022/2022 |
