Phenotype #0000279344

Individual ID 00385549
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; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short limbs; lumbar/sacral anomalies; joint contractures/limitations
Diagnosis/Initial congenital heart disease
Inheritance Familial, autosomal dominant
Diagnosis/Definite CHTD2
Age/Examination 48y (48 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-12 19:03:42 +02:00 (CEST)
Date last edited N/A

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