Global Variome shared LOVD

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

Phenotype #0000086121 Individual ID 00108647 Associated disease CMH Phenotype details no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; angiokeratomas, right ear hearing loss, visual impairment, hypothyroidism, atrial fibrillation , non-sustained ventricular tachycardia; left ventricular wall thickness (mm) 19; left ventricular ejection fraction 0.60 Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset - Protein - Owner name Domenico Coviello Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-07-28 12:12:32 +02:00 (CEST) Date last edited N/A

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