Phenotype #0000358609

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473814
Associated disease	CMS
Phenotype details	Bilateral ptosis; Facial muscle weakness while chewing; Blurred vision & diplopia; Muscle weakness, lower>=upper limbs; MuSK Ab: negative; EMG-NCV: post synaptic neuromuscular junctional disorder.
Diagnosis/Initial	congenital myasthenic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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