Global Variome shared LOVD

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

Phenotype #0000300820 Individual ID 00408701 Associated disease FSHD Phenotype details slowly worsening proximal muscular weakness for 3y; waddling gait, Gowers’ sign, asymmetric winging scapula, diffuse and severe asymmetric muscular atrophy Diagnosis/Initial facioscapulohumeral muscular dystrophy Inheritance Unknown Diagnosis/Definite FSHD2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-04-25 20:31:46 +02:00 (CEST) Date last edited N/A

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