Phenotype #0000357715

Individual ID 00472920
Associated disease CMS
Phenotype details Bilateral ptosis at age 3 months, exacerbated by fatigue; Nystagmus; Esotropia; Positive anti acetylcholine receptor Ab; Negative Anti-MuSK.
Diagnosis/Initial congenital myasthenic syndrome
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 5y (5 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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