Phenotype #0000325860

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00435676
Associated disease	MYOP
Phenotype details	see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal IV/distal IV; high arched palate, elongated face; CK level 146U/L
Diagnosis/Initial	lower limbs weakness
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-09 09:56:20 +02:00 (CEST)
Date last edited	2023-08-09 10:24:40 +02:00 (CEST)

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