| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Alkuraya-Kucinskas syndrome | brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, clubfoot, and global developmental delay | Autosomal recessive | 4q27 | Substitution | KIAA1109/BLTP1 | c.1297A>G | p.Thr4033Ala | Missense | Gul et al., 2023/2023 |
