Phenotype #0000357992

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473197
Associated disease	neuropathy
Diagnosis/Initial	hereditary neuropathy
Diagnosis/Definite	-
Phenotype details	onset 8y , distal upper and lower muscle weakness, gait abnormality, running difficulty, pes cavus, distal spinal muscular atrophy or axonal moto r neuropathy reported in EMG/NCV, normal brain MRI
Inheritance	Unknown
Age/Examination	20y (20 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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