Global Variome shared LOVD

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Phenotype #0000187436 Individual ID 00248445 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 knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage 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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