Global Variome shared LOVD

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

Phenotype #0000357010 Individual ID 00472201 Associated disease MPXPS Phenotype details Scapuloperoneal myopathy * Sensory neuropathy * Intellectual disability, profound * Tall chin * Moderately short stature * Hypothyroidism Diagnosis/Initial LGMD Inheritance Unknown Diagnosis/Definite Myopathy with extrapyramidal signs Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - MotorSkills - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-15 15:47:32 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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