| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (VPS13B) | Cognitive impairment | Autosomal Recessive | 8q22.2 | Substitution | VPS13B | c.5590C>T | p.Gln1864* | Nonsense | S Riazuddin et al., 2016/2016 |
