Global Variome shared LOVD

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Phenotype #0000119743 Individual ID 00147026 Associated disease NEDHCAS Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ... Inheritance Familial, autosomal recessive Age/Examination - 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 2017-12-29 14:59:27 +01:00 (CET) Date last edited N/A

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