Phenotype #0000357948

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473153
Associated disease	paraplegia
Diagnosis/Initial	hereditary paraplegia
Diagnosis/Definite	-
Phenotype details	onset 25y, consanguineous parents ,spastic gait, upper and lower muscle weakness, mild lower muscle atrophy, mild pes cavus, normal EMG/NCV with mild neurogenic process, normal CPK, normal cervical, thoracic MRI
Inheritance	Unknown
Age/Examination	32y (32 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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