Global Variome shared LOVD

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Phenotype #0000228461 Individual ID 00301157 Associated disease APRTD Phenotype details see paper; ..., painful urination, dysuria Diagnosis/Initial APRT deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite APRTD Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis - Age/Onset 03y06m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-08 12:06:20 +02:00 (CEST) Date last edited N/A

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