Phenotype #0000358161

Individual ID 00473366
Associated disease CMS
Phenotype details onset 6-month; Hypotonia; Delayed motor milestones; Bilateral ptosis; Strabismus; Mild to moderate fatigable limb muscle weakness, upper > lower; Bulbar muscle weakness; EMG-NCV: suggestive of myasthenic syndrome. Consanguineous parents.
Diagnosis/Initial congenital myasthenic syndrome
Inheritance Familial, autosomal dominant
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 InternationalCreative Commons License
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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