Global Variome shared LOVD

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Phenotype #0000279348 Individual ID 00385553 Associated disease UL Phenotype details skin hyperextensibility, multiple atrophic and "cigarette paper" scars, easy bruising, absence of lingual frenum, generalized joint hypermobility (Beighton score [2]: 9/9), mild right-convex thoracic scoliosis, bilateral genu valgum-recurvatum, cubitus valgus with elbows hyperextensibility, and bilateral pes planus. Diagnosis/Initial Classical Ehlers-Danlos syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite Classical Ehlers-Danlos syndrome Age/Examination 08y (8 years) Age/Diagnosis 09y Age/Onset - Phenotype/Onset - Protein - Owner name Lucia Micale Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lucia Micale Date created 2021-10-13 09:18:56 +02:00 (CEST) Date last edited 2021-10-14 12:25:29 +02:00 (CEST)

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