Global Variome shared LOVD

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

Phenotype #0000086889 Individual ID 00109416 Associated disease UCMD Phenotype details progressive weakness, distal finger hyperlaxity, contractures of elbows, knees/ankles, mild scoliosis, mild keratosis pilaris; wheelchair-bound teens; FVC 0.31 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis 24y Age/Onset - Phenotype/Onset - Protein - Owner name Sandra Donkervoort Database submission license No license selected Created by Sandra Donkervoort Date created 2014-07-10 10:03:03 +02:00 (CEST) Date last edited 2014-07-11 16:10:10 +02:00 (CEST)

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