Global Variome shared LOVD

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

Phenotype #0000310070 Individual ID 00418774 Associated disease SGS Phenotype details hypermetropy, joint hypermobility, mitral valve prolapse, polyvalvular dysplasia/ insufficiency, kyphoscoliosis , bilateral inguinal hernias Diagnosis/Initial Aortic valvular disease Inheritance Unknown Diagnosis/Definite Shprintzen–Goldberg Syndrome Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Carmela Fusco Database submission license No license selected Created by Carmela Fusco Date created 2022-10-06 13:36:35 +02:00 (CEST) Date last edited 2022-10-07 10:41:28 +02:00 (CEST)

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