KMT2D and choanal atresia: Widespread use of NGS has led to the identification of additional KMT2D-related disorders in addition to KS: Individuals with missense variants in a highly conserved region of 54 amino acids in exons 38 or 39 of KMT2D present with a unique clinical phenotype that includes choanal atresia, athelia, thyroid abnormalities, abnormal pubertal development, and short stature [26,27].