Global Variome shared LOVD

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Phenotype #0000187459 Individual ID 00248468 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial distal arthrogryposis Age/Examination - Diagnosis/Definite DA-5D Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Phenotype details see paper; …, extension contractures hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; 19wGA-arthrogryposis multiplexa congenita on ultra-sound, abnormal posturing limbs, no movement in knees, clubfoot, hands in clenched position, born at term, birth weight 3.5 kg Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-23 23:23:22 +02:00 (CEST) Date last edited N/A

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