On admission, she had SBP 130mmHg (above 99th), DBP 75mmHg (above 99th), periorbital and legs pitting edema and respiratory distress.
[revistanefrologia.com]
Clinical description Clinical signs include lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, and muscle hypotonia, as well as developmental
[orpha.net]
distress, muscular hypotonia, hepatomegaly and coma.
[orpha.net]