Global Variome shared LOVD

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Phenotype #0000351781 Individual ID 00466417 Associated disease 3MC1 Phenotype details Minicore myopathy * Pes valgus * Pes planus * Steppage gait * Flexion contracture of toe * Deviation of toes * Neonatal hypotonia * Global developmental delay * Seizures Diagnosis/Initial Distal myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite PNRIID 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 15:20:54 +02:00 (CEST) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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