Whole genome sequencing reveals diagnosis in a 12-month-old child with elevated creatinine kinase, pseudohypertriglyceridemia, and a complex phenotype.

Initial presentation was incorrectly diagnosed as adrenal insufficiency only, despite excessively elevated creatinine kinase and triglycerides, which could have expedited the correct diagnosis of Xp21.3p21.1 CGDS by guiding whole genome or targeted sequencing.