Global Variome shared LOVD

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

Phenotype #0000279499 Individual ID 00385551 Associated disease CHTD Phenotype details facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; aortic valve dystrophy/insufficiency; aortic root dilatation; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; mild joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; joint contractures/limitations Diagnosis/Initial congenital heart defect Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 60y (60 years) 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 2021-10-12 19:25:07 +02:00 (CEST) Date last edited N/A

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