Phenotype #0000228352

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301041
Associated disease	APRTD
Phenotype details	see paperp; ..., since birth passing large number of yellowish-red stones some as large a peas
Diagnosis/Initial	APRT deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	APRTD
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	05y06m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-05 17:43:04 +02:00 (CEST)
Date last edited	N/A

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