Global Variome shared LOVD

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Phenotype #0000105575 Individual ID 00132791 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial distal arthrogryposis Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details see paper; ..., distal arthrogryposis; abnormal facial shape; scoliosis; respiratory insufficiency; contractures joints upper limbs; contractures joints lower limbs Protein - Owner name Mark Davis Database submission license No license selected Created by Johan den Dunnen Date created 2017-11-10 13:31:35 +01:00 (CET) Date last edited 2020-10-27 16:15:16 +01:00 (CET)

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