Conclusion
Genetic testing should be considered early in an infant who presents with central hypoventilation and hypotonia. When considering genetic causes for hypoventilation, HIDEA syndrome is an important differential when associated with hypotonia and other multisystemic features. Early diagnosis can help with prognostication and counselling about future pregnancies as well. More importantly, early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong continuous or intermittent ventilatory dependence. This minimises the complications of chronic hypoxia and reduces mortality risk.