Phenotype #0000292038

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398949
Associated disease	MYOP
Phenotype details	ptosis; 1y2m-walk, run; ptosis; no ophthalmoplegia; facial weakness; no flexor weakness; proximal weaksness, distal weakness; 2y-no cardiac involvement
Diagnosis/Initial	congenital myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	3y
Phenotype/Onset	ptosis
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-14 16:20:15 +01:00 (CET)
Date last edited	N/A

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