Global Variome shared LOVD

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Phenotype #0000187444 Individual ID 00248453 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; normal ultra-sound, intrauterine growth retardation, born at term; moderate lipid storage unaffected muscle 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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