Global Variome shared LOVD

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

Phenotype #0000303491 Individual ID 00411454 Associated disease EDSCL1 Diagnosis/Initial cEDS Diagnosis/Definite - Phenotype details soft, doughy and hyperextensible skin and multiple atrophic scars. He reported easy bruis- ing with spontaneous haematomas, but no major vascular complications. Echocardiographic investigations revealed no abnormalities. Inheritance Familial Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Oumaima Nehaili Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Oumaima Nehaili Date created 2022-06-14 06:25:55 +02:00 (CEST) Date last edited 2024-10-17 12:13:57 +02:00 (CEST)

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