Global Variome shared LOVD

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Phenotype #0000338739 Individual ID 00449564 Associated disease ? Diagnosis/Initial distal arthrogryposis Diagnosis/Definite - Phenotype details see paper; ..., aborted fetus; 20wg+4 multiple musculoskeletal malformations; bilateral clubfoot, plantar contracture; contractures both hands, either in flexion or extension Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Marcello Scala Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marcello Scala Date created 2024-04-24 16:55:25 +02:00 (CEST) Date last edited 2026-02-25 19:34:58 +01:00 (CET)

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