Global Variome shared LOVD

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

Phenotype #0000358569 Individual ID 00473774 Associated disease CMS Phenotype details Prolonged jaundice; Facial muscle weakness; Long face; Retrognathia; Mild strabismus; Simple, loop ears; Muscle weakness; Mild scoliosis; Malocclusion; Difficulty running & climbing stairs; Muscle biopsy: muscular dystrophy; EMG-NCV: myopathic changes Diagnosis/Initial congenital myasthenic syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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