Global Variome shared LOVD

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Phenotype #0000303271 Individual ID 00411196 Associated disease EDSCL1 Diagnosis/Initial cEDS Diagnosis/Definite - Phenotype details Presented w/ generalised joint hypermobility, most pronounced at the distal joints. No dislocations present. Severe varicose veins were seen on the lower limb. Small atrophic scars at his knees and a haemosiderotic scar on his right lower leg. He also suffered from chronic pain, fatigue and poor dentition. Inheritance Unknown Age/Examination 29y (29 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 2022-06-07 04:39:39 +02:00 (CEST) Date last edited 2022-06-07 15:14:36 +02:00 (CEST)

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