Global Variome shared LOVD

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Phenotype #0000104259 Individual ID 00132079 Associated disease CSCF Phenotype details see paper; ..., soft/dystrophic skin, extreme joint hypermobility, polyvalvular heart disease, upper gastrointestinal dismotility Diagnosis/Initial suspected hereditary connective tissue disorder Inheritance Isolated (sporadic) Diagnosis/Definite CSCF Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Marco Ritelli Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-10-21 23:52:23 +02:00 (CEST) Date last edited 2019-04-10 12:56:27 +02:00 (CEST)

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