Phenotype #0000358700

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473905
Associated disease	CMS
Phenotype details	Poor feeding due to muscle weakness; Bilateral ptosis; Mild facial weakness; Bulbar muscle weakness; Generalized muscle weakness; Mild muscle atrophy; Lordosis.
Diagnosis/Initial	congenital myasthenic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	32y (32 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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