Phenotype #0000351747

Individual ID 00466383
Associated disease LGMDR10;LGMD2J
Phenotype details EMG abnormality, Myopathy, Coarctation of aorta, Dystal arthrogryposis, Congenital shortened small intestine
Diagnosis/Initial Cardiomyopathy
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 InternationalCreative Commons License
Created by Camille Verebi
Date created 2025-08-27 09:26:39 +02:00 (CEST)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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