Global Variome shared LOVD

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

Phenotype #0000333733 Individual ID 00444480 Associated disease adrenal hyperplasia Diagnosis/Initial adrenal hypoplasia Diagnosis/Definite AHC Phenotype details hyperpigmentation; dehydration; vomiting; prolonged jaundice; convulsions; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Inheritance Familial, X-linked recessive Age/Examination - Age/Diagnosis - Age/Onset 5d 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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