Global Variome shared LOVD

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Phenotype #0000303490 Individual ID 00411453 Associated disease EDSCL1 Diagnosis/Initial cEDS Diagnosis/Definite - Phenotype details joint hypermobility was noted with remaining distal hypermobility and recurrent dislocations of small joints and shoulders. She also presented moderate scoliosis, halluces valgi, pedes cavi and piezogenic papulae. Her skin was soft, doughy, and hyperextensible (almost cutis laxa-like) with increased fragility and multiple atrophic scars. She showed no increased skin translucency, but there was easy bruising with a history of haematomas. Besides varicose veins and a carotid stenosis at age 62 years, there were no other vascular complications and echocardiography and echo-doppler of the supra- aortic vessels showed no abnormalities besides a mild mitral valve prolapse. Her facial features included mild hypertelorism, light blue sclerae and a premature aged appearance. Inheritance Familial Age/Examination 62y (62 years) Age/Diagnosis 75y Age/Onset 01y? 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 06:13:46 +02:00 (CEST) Date last edited 2024-10-17 11:30:01 +02:00 (CEST)

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