Global Variome shared LOVD

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Phenotype #0000187434 Individual ID 00248443 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 knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia 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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