| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (SLC12A6) | Severe ID, hypotonia, areflexia, and mild dysmorphic facial features. They were dysarthric, had strabismus, and were unable to stand or walk. | Autosomal Recessive | 15q14 | Duplication | SLC12A6 | c.2866dup | p.Ser956PhefsTer27 | Frame Shift leading to Premature Termination | Paracha et al. 2024/2024 |
