Phenotype #0000291951

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398854
Associated disease	OBAIRH
Phenotype details	see paper; ..., obesity, red hair pigmentation and ACTH deficiency; brother 7m-died hepatic failure following severe cholestasis caused by adrenal insufficiency due to bilateral adrenal hypoplasia
Diagnosis/Initial	obesity, red hair pigmentation, ACTH defiiciency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	OBAIRH
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-13 16:55:30 +01:00 (CET)
Date last edited	N/A

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