Global Variome shared LOVD

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Phenotype #0000357078 Individual ID 00472268 Associated disease LGMDR10;LGMD2J Phenotype details 0002349: Simple partial seizure, 0001319: Neonatal hypotonia, 0030799: Scaphocephaly, 0001357: Plagiocephaly, 0000316: Hypertelorism, 0002650: Scoliosis, 0001618: Dysphonia, 0003398: Neuromuscular junction abnormality Diagnosis/Initial Congenital myastenic syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CMYO5 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 2026-01-20 16:31:33 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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