| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypotonic Facies Syndrome (ATRX) | Moderate to severe ID, aggressive behavior, language problems, mild microcephaly, and mild facial dysmorphic features. | X linked | Xq21.1 | Nonsense | ATRX | c.109C > T | p.Arg37* | Premature Termination | Paracha et al. 2024/2024 |
