Phenotype #0000228343

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301032
Associated disease	APRTD
Phenotype details	10y-recurrent urinary-tract infections; 23y-first renal colic, recurrent attacks since then; 29y-bilateral nephrolithotomy
Diagnosis/Initial	APRT deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	APRTD
Age/Examination	42y (42 years)
Age/Diagnosis	-
Age/Onset	03y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-05 16:58:10 +02:00 (CEST)
Date last edited	2020-05-05 17:02:13 +02:00 (CEST)

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