| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (DOP1A) | Deficiencies in movement, linguistic competence, and adaptive behavior were commonly observed. In addition, some patients exhibited co-occurring symptoms such as epilepsy or skeletal abnormalities. | Autosomal Recessive | 6q14.1 | Substitution | DOP1A | c.2561A>G | Missense | Zhang et al.,/2024 |
