Global Variome shared LOVD

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Phenotype #0000357064 Individual ID 00472255 Associated disease SHFYNG Phenotype details 0001270: Motor delay, 0003701: Weakness of proximal muscles, 0002659: Increased susceptibility to fractures Diagnosis/Initial Congenital myopathy Inheritance Isolated (sporadic) Diagnosis/Definite Schaaf-Yang syndrome 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 13:06:16 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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