Global Variome shared LOVD

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Phenotype #0000321098 Individual ID 00430290 Associated disease EDSCL1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Symptoms of the EDS type 1, including hyperextensible skin, tissue fragility, and bruised skin. A Beighton score of 5. Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Nassim Louail Database submission license Creative Commons Attribution 4.0 International Created by Nassim Louail Date created 2023-01-17 05:21:14 +01:00 (CET) Date last edited 2023-03-08 12:30:20 +01:00 (CET)

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