| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (ABAT) | Moderate ID, developmental delay, speech problems, and aggressive behavior. | Autosomal Recessive | 16p13.2 | Missense | ABAT | c.1439 T > G | p.Phe480Cys | Amino acid Substitution | Paracha et al. 2024/2024 |
