Phenotype #0000228459

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301156
Associated disease	APRTD
Phenotype details	see paper; ..., 28y-obstructive chronic kidney disease with crystalluria
Diagnosis/Initial	APRT deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	APRTD
Age/Examination	47y (47 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-08 12:01:40 +02:00 (CEST)
Date last edited	N/A

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