| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (MAN2B1) | Cognitive impairment | Autosomal Recessive | 19p13.13 | Substitution | MAN2B1 | c.1928+1C>G | p.Phe642Phefs*2 | Aberrant splicing | S Riazuddin et al., 2016/2016 |
