Global Variome shared LOVD

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Phenotype #0000228845 Individual ID 00301747 Associated disease ? Diagnosis/Initial intrauterine growth retardation Diagnosis/Definite - Phenotype details see paper; ..., connective tissue disorder with unique phenotype overlapping collagen disorders like Stickler syndrome, Ehlers-Danlos syndrome type IV, Ehlers-Danlos syndrome type VI, Bruck syndrome and epidermolysis bullosa Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-22 19:17:06 +02:00 (CEST) Date last edited N/A

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