Phenotype #0000358174

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473379
Associated disease	ALS
Phenotype details	Dominant pattern, started one year ago with upper muscle weakness, dysarthria, mild bulbar dysfunction, motor neuron disease reported in EDX and slightly elevated CPK
Diagnosis/Initial	amyotrophic lateral sclerosis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	30y (30 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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