Genetic Orphan Diseases & Traits

2023 DRG1 deficiency as the cause of Tan-Almurshedi Syndrome

2022 DPP9 deficiency as the cause of Hatipolglu Syndrome

2021 WLS deficiency as the cause of Zaki Syndrome

2021 C2orf69 deficiency as the cause of Elbracht-Isikayi Syndrome

2020 UGDH mutations as the cause of Jamuar Syndrome

2017 CDK10 mutations as the cause of Al Kaissi Syndrome

2015 DCPS mutations as the cause of Al-Raqad Syndrome

2012 IRX5 mutations as the cause of Hamamy Syndrome

2011 TGFBR1 mutations as the cause of Ferguson-Smith Disease