Global Variome shared LOVD

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Phenotype #0000085732 Individual ID 00108079 Associated disease BHDS Phenotype details see paper; ..., history of hypertension, presented with multiple asymptomatic bumps on face (progressively over time, denied personal or family history of similar lesions, renal cell carcinoma, spontaneous pneumothorax, other pulmonary disease; physical examination revealed diffuse flesh-colored, dome-shaped and pedunculated papules on face, neck, upper back, chest, arms, and axillary folds; histopathologic analysis of biopsy specimens from left jawline and left forearm consistent with fibrofolliculoma and trichodiscoma Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 53y (53 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Derek Lim Date created 2016-05-13 17:20:32 +02:00 (CEST) Date last edited 2017-07-21 10:23:15 +02:00 (CEST)

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