Global Variome shared LOVD

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Phenotype #0000352526 Individual ID 00467319 Associated disease arthrogryposis Inheritance Isolated (sporadic) Diagnosis/Initial lethal arthrogryposis Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details see paper; ..., 2d-deceased; birth microretrognathia, short neck, bilateral camptodactyly third and fourth fingers, bilateral club foot, severe hypotonia, respiratory distress Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-10 17:20:40 +02:00 (CEST) Date last edited N/A

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