Global Variome shared LOVD

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Phenotype #0000279500 Individual ID 00385552 Associated disease CHTD Phenotype details facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; short limbs; neurinoma; palmoplantar keratoderma Diagnosis/Initial congenital heart defect, palmoplantar keratoderma Inheritance Isolated (sporadic) Diagnosis/Definite CHTD2;MDM Age/Examination 15y (15 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 2021-10-12 19:32:27 +02:00 (CEST)

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