| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| intellectual disability and retinitis pigmentosa (IDRP) syndrome (AGPAT3) | intellectual disability and retinitis pigmentosa | Autosomal Recessive | 21q22.3 | Nonsense | AGPAT3 | c.747 C>A | p.Tyr249Ter | Premature Termination | /Malik et al., 2023 |
