| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (FKRP) | Autosomal Recessive | 19q13.32 | Deletion | FKRP | c.1437delG | p.Asn480Thrfs*10 | Premature stop codon | Rasool et al., 2023/2023 |
