Phenotype #0000358134

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00473339
Associated disease	CMS
Phenotype details	Ptosis, bilateral since infancy; Ophthalmoplegia; Facial weakness; Generalized muscle weakness; Normal EMG-NCV; Negative anti-MuSK antibody; Borderline to negative anti-acetylcholine receptor antibody.
Diagnosis/Initial	congenital myasthenic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	25y (25 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.