| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (ANK3) | ID, ataxia, hypotonia, developmental delay, seizures, speech abnormality, and aggressive behavior | Autosomal Recessive | 10q21.2 | Substitution | ANK3 | c.178T>C | p.Tyr60His | Missense | Younus M et al., 2023/2023 |
