Global Variome shared LOVD

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Phenotype #0000279498 Individual ID 00385550 Associated disease CHTD Phenotype details facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; bicuspid aortic valve; myocardial non-compaction; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; lumbar/sacral anomalies Diagnosis/Initial congenital heart defect Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 28y (28 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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