Phenotype #0000358154

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473359
Associated disease	paraplegia
Diagnosis/Initial	hereditary paraplegia
Diagnosis/Definite	-
Phenotype details	muscle weakness and atrophy, bulbar dysfunction, dysarthria, spastic gait, pes cavus, cerebellar sign, increased DTR, chronic L5-S1 motor neuropathy reported in EMG and normal brain MRI
Inheritance	Familial, autosomal recessive
Age/Examination	23y (23 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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