Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000333665 Individual ID 00444412 Associated disease adrenal hyperplasia Diagnosis/Initial childhood-onset primary adrenal insufficiency Diagnosis/Definite LCAH Phenotype details hyperpigmentation; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 1m9d Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-24 11:42:22 +01:00 (CET) Date last edited N/A

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