Global Variome shared LOVD

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

Phenotype #0000315993 Individual ID 00424798 Associated disease EDSVASC Phenotype details Positive for carotid-cavernous sinus fistula, easy bruising, thin/translucent skin, characteristic facial features, acrogeria, tendon and muscle rupture and gingival recession. Family history significant for daughter and son variant positive. Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Oumaima Nehaili Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Oumaima Nehaili Date created 2022-11-22 03:43:09 +01:00 (CET) Date last edited 2024-10-17 12:20:39 +02:00 (CEST)

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