Phenotype #0000358313

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473518
Associated disease	SMA
Phenotype details	Muscular weakness; progressive, upper limbs; Muscle wasting, proximal; Hyperlordosis; Difficulty running & rising from seated position; Wheelchair-bound.
Diagnosis/Initial	spinal myscular atrophy
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	21y (21 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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