Phenotype #0000175660

Individual ID 00235348
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details generalized joint hypermobility, facial dysmorphism, abnormal skin texture, short limbs, hearing loss, recurrent otitis media, polyvalvular heart dystrophy, progressive mitral valve disease, dilated cardiomyopathy, cardiac arrhythmias and atrial septum aneurysm
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Lucia Micale
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-05-24 14:47:53 +02:00 (CEST)
Date last edited N/A

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