Global Variome shared LOVD

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

Phenotype #0000015235 Individual ID 00016723 Associated disease DA5 Phenotype details contractures hand/feet, short stature, mild bilateral ptosis, bilateral ophthalmoplegia, scoliosis, pulmonary disease Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-05-27 13:33:10 +02:00 (CEST) Date last edited 2015-09-11 19:56:37 +02:00 (CEST)

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