| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, PDE2A) | Intellectual developmental disorder with paroxysmal dyskinesia or seizures | Autosomal Recessive | 11q13.4 | Substitution | PDE2A | c.1514T>C | p.Phe505Ser | Missense | Yousaf et al., 2023/2023 |
