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Introduction: Schaaf-Yang syndrome is a rare genetic disorder first described in 2013. We aim to publish the first Brazilian case report of Schaaf-Yang syndrome as well as to describe the first variant p.Val701Glysfs*12 of a patient in a neonatal intensive care unit in a tertiary hospital in Belem, Brazil. Case Report: A preterm neonate patient 37-2/7 weeks, admitted to a tertiary private hospital in the North Region of Brazil, was promptly diagnosed with Schaaf-Yang syndrome and received the adequate clinical management. Clinical manifestations of the disease were associated to neonatal hypotonia, intellectual disability and developmental delay, hypogonadism, and hyperphagia. Conclusion: After evaluating potential and more commonly genetic diseases, a prompt and complete genetic assessment is helpful to establish a definite diagnosis of Schaaf-Yang syndrome and correlated diseases.

Schaaf-Yang syndrome: A novel variant in MAGEL2 gene in the first Brazilian preterm neonate