Global Variome shared LOVD

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Phenotype #0000227627 Individual ID 00300316 Associated disease BRKS Diagnosis/Initial Bruck syndrome Diagnosis/Definite BRKS2 Phenotype details see paper; ..., 1d-congenital contractures with pterygia; severe OI-like osteopenia, multiple fractures Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-30 18:19:56 +02:00 (CEST) Date last edited N/A

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