| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Phelan-McDermid Syndrome (SHANK3) | Severe ID, severely delayed developmental milestones, hypotonia, severely impaired speech, aggressive behavior, and mild facial dysmorphism | Autosomal Recessive | 22q13.33 | Splice site variant | SHANK3 | c.1305-3_1,305-2delTT | ? | - | Paracha et al. 2024/2024 |
