Global Variome shared LOVD

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Phenotype #0000228437 Individual ID 00301133 Associated disease APRTD Phenotype details see paper; ..., acute on chronic kidney injury, hypertension, pernicious anaemia, 7-year history type 2 diabetes Diagnosis/Initial APRT deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite APRTD Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset - 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 11:01:54 +02:00 (CEST) Date last edited N/A

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