Global Variome shared LOVD

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Phenotype #0000088128 Individual ID 00081802 Associated disease - Phenotype details see paper; ... Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y10m (14 years, 10 months) 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 2017-08-05 10:26:35 +02:00 (CEST) Date last edited 2019-12-08 11:30:42 +01:00 (CET)

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