Additionally, Xia-Gibbs syndrome patients experience both epilepsy and autism (3); whole-genome sequencing has revealed rare AHDC1 germline variants in first-degree relatives of familial pancreatic cancer patients (16); and there is a heightened risk of long-term kidney disease in patients with rare missense variants in AHDC1 (17). This evidence concerns the gene AHDC1 and AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome.