Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000078554 Individual ID 00100332 Associated disease pheochromocytoma Phenotype details multifocal PHEOs, biochemical phenotype predominantly adrenergic, ccRCC; sons carrying variant had ephelides in their lips; sons (23y/22y) currently normal urinary/plasma metanephrines, unremarkable abdominal MRI except tiny right renal cyst oldest son Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 47y (47 years) Age/Diagnosis 47y Age/Onset - Phenotype/Onset - Protein - Cancer/Sub_type PCC Owner name Shahida Flores Database submission license No license selected Created by Shahida Flores Date created 2017-02-10 23:50:05 +01:00 (CET) Date last edited 2020-10-16 17:50:04 +02:00 (CEST)

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