Global Variome shared LOVD

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

Phenotype #0000321766 Individual ID 00431157 Associated disease EDSCL1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Meets major criteria. Dislocation of joints, arthralgias, delayed wound healing, Hx of hand fracture, pectus carinatum, POTS, IBD, hyperalgesia. Inheritance Unknown Age/Examination - 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 2023-01-30 22:08:28 +01:00 (CET) Date last edited 2024-10-21 14:14:14 +02:00 (CEST)

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