| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (AP4S1) | Cognitive impairment | Autosomal Recessive | 14q12 | Substitution | AP4S1 | c.139-2A>G | p.Gln46Glnfs*85 | Aberrant splicing | S Riazuddin et al., 2016/2016 |
