Phenotype #0000358410

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473615
Associated disease	MD
Phenotype details	Difficulty rising from seated position; Difficulty running; Tip-toe walking; Frequent falling; Wheelchair-boundat 20 y/o; Weakness in hands; Elevation and abduction limitation, upper limbs; Calf pseudohypertrophy
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	26y (26 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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