Kabuki syndrome (KS), caused by pathogenic variants in KMT2D or KDM6A , is associated with hyperinsulinemic hypoglycemia (HH) in 0.3‐4% of patients.
The higher incidence of HH in KDM6A‐ KS compared to KMT2D‐ KS indicates that KDM6A loss of function variants predispose more specifically to beta cell dysfunction compared to KMT2D variants. As difficulties to assign syndromic characteristics to KS in early infancy often lead to delayed diagnosis, genetic testing for KS should be considered in children with HH, especially in the presence of other extrapancreatic/syndromic features.