Phenotype #0000358073

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473278
Associated disease	CMS
Phenotype details	onset 6y , bilateral ptosis, muscle cramps, easy fatigability, motor neuron junction disease reported in EMG/NCV,anti Ach receptor antibody negative
Diagnosis/Initial	congenital myasthenic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	17y (17 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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