Phenotype #0000333664

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00444411
Associated disease	adrenal hyperplasia
Diagnosis/Initial	childhood-onset primary adrenal insufficiency
Diagnosis/Definite	LCAH
Phenotype details	hyperpigmentation; vomiting; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
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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