Global Variome shared LOVD

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

Phenotype #0000358444 Individual ID 00473649 Associated disease CMS Phenotype details Difficulty climbing stairs after exercise; Difficulty chewing; Facial weakness, mild; Ptosis; Muscle weakness, lower>upper; Muscle wasting, lower limbs; One episode of diplopia, fever, dysarthria and respiratory infection. Immunologic test is negative for acetylcholine receptor (AChR) autoantibodies Diagnosis/Initial congenital myasthenic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 7y (7 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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