Phenotype #0000292036

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398947
Associated disease	MYOP
Phenotype details	weakness; 1y6m-walk, run; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, no distal weakness; 14y-no cardiac involvement
Diagnosis/Initial	congenital myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	1y6m
Phenotype/Onset	weakness
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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