Phenotype #0000358188

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473393
Associated disease	neuropathy
Diagnosis/Initial	hereditary neuropathy
Diagnosis/Definite	-
Phenotype details	Sporadic case, onset 7y, distal lower and upper muscle weakness and atrophy, gait abnormality, mild bulbar dysfunction, fasciculation , pes cavus, chronic axonal sensorimotor polyneuropathy
Inheritance	Unknown
Age/Examination	63y (63 years)
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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