Global Variome shared LOVD

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Phenotype #0000343299 Individual ID 00454660 Associated disease CSNU Phenotype details see paper; ..., birth 40w induction, weight 2,8g, length 49cm; 13.4y-puberty Diagnosis/Initial hypotonia-cystinuria syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite cystinuria Age/Examination - 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 2024-09-23 16:17:55 +02:00 (CEST) Date last edited N/A

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