Global Variome shared LOVD

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Phenotype #0000351778 Individual ID 00466414 Associated disease EDMD2;LGMD1B Phenotype details Achilles tendon contracture Spinal rigidity Contractures of the joints of the upper limbs Contractures of the joints of the lower limbs Contractures of the large joints Follicular hyperkeratosis Diagnosis/Initial Myopathy with joint contractures Inheritance Unknown Diagnosis/Definite EDMD2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2025-08-27 14:43:23 +02:00 (CEST) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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