Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000351762 Individual ID 00466398 Associated disease LGMDR10;LGMD2J Phenotype details Muscular ventricular septal defect * Arthrogryposis multiplex congenita * Generalized hypotonia * Cryptorchidism * Failure to thrive * Camptodactyly * Delayed speech and language development Diagnosis/Initial Congenital arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR10 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 12:11:55 +02:00 (CEST) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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