Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000316092 Individual ID 00424897 Associated disease EDS Inheritance Familial, autosomal dominant Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Onset - Phenotype/Onset - Phenotype details stretchable thin skin, poor scaring, hypermobile joints with pain and easy bruising; Beighton's hyperflexibility score 6/9; multiple knee surgeries; strabismus (exotropia) 12y-repaired; surgery right knee due to frequent dislocations; bilateral foot surgeries due to pes planus; 37y-stroke without hypertension; 43y-cardiac transplant for heart failure Hearing/Loss - Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-22 18:10:41 +01:00 (CET) Date last edited N/A

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