Global Variome shared LOVD

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Phenotype #0000295789 Individual ID 00402743 Associated disease EDSVASC Phenotype details see paper; ..., low muscle tonus, skin tearing, excessive bleeding upon laparoscopic myomectomy surgery for uterine fibroids; medical history of indirect carotid-cavernous sinus fistula 26y-treated with intravenous embolization; “Madonna” face with large eyes, nasal thinning, small earlobes, thin translucent skin with telangiectasia; no obvious hypermobility small joint, no skin hyperextensibility; skin biopsy specimen showed sparse and thin collagen fibers indermis; no family hstory Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-16 11:20:20 +01:00 (CET) Date last edited N/A

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