| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability, Nonsyndromic, Biallelic inheritance (RDH14) | Cognitive impairment | Autosomal Recessive | 2p24.2 | Dup | RDH14 | c.114dup | Gly39Argfs*97 | Nonsense | Pastore et al., 2021/2021 |
