Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype

Abstract

Key Clinical Message We report two, genotypically identical but phenotypically distinct cases of Schaaf‐Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of children with rare genetic diseases and improve overall health care outcomes.

Keywords

• ICU
• MAGEL2
• phenotype–genotype association
• rapid whole genome sequencing