Phenotype #0000228409

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301104
Associated disease	APRTD
Phenotype details	nephrolithiasis; serum creatinine at diagnosis 1.4 (mg/dL), serum creatinine latest 1.0 (mg/dL)
Diagnosis/Initial	APRT deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	APRTD
Age/Examination	-
Age/Diagnosis	43y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-07 19:48:54 +02:00 (CEST)
Date last edited	N/A

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