Global Variome shared LOVD

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

Phenotype #0000086890 Individual ID 00109417 Associated disease UCMD Phenotype details delayed motor mile stones, proximal weakness, distal finger hyperlaxity with coexisting and long finger flexor contractures: limited shoulder abduction; rigid spine, keratosis pilaris, keloid scarring; FVC 0.83 Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sandra Donkervoort Database submission license No license selected Created by Sandra Donkervoort Date created 2014-07-10 10:07:06 +02:00 (CEST) Date last edited 2014-07-11 16:12:53 +02:00 (CEST)

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