| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic (TUSC3) | Cognitive impairment | Autosomal Recessive | 8p22 | Deletion | TUSC3 | 170.673 Kb deletion after 1st exon | - | NMD | 0/Khan et al., 2011 |
| Intellectual Disability, Nonsyndromic (TUSC3) | Cognitive impairment | Autosomal Recessive | 8p22 | Deletion | TUSC3 | 170.673 Kb deletion after 1st exon | - | NMD | 0/Khan et al., 2011 |
