Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




Disease hypotonia
Phenotype C0020598|hypoglycemia
Sentences 1
PubMedID- 22830024 Mutation g555e in the sdha gene was reported twice before: a patient who died at 5.5 months from respiratory difficulties and severe hypoglycemia, presenting also with severe hypotonia, hepatosplenomegaly, and cardiac dysrhythmia with cardiomegaly [91].

Page: 1