Phenotype #0000358754

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473959
Associated disease	motor neuron disease
Diagnosis/Initial	motor neuron disease
Diagnosis/Definite	-
Phenotype details	onset 64y, Proximal muscle weakness, asymmetric, lower>upper, Rt>Lt leg; Difficulty rising from seated position & climbing steps; Ataxia; Numbness; Sweating; EMG-NCV suggestive of upper motor neuron disease.
Inheritance	Familial, autosomal dominant
Age/Examination	64y (64 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
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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