Phenotype #0000358163

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473368
Associated disease	leukodystrophy
Diagnosis/Initial	leukodystrophy
Diagnosis/Definite	-
Phenotype details	bulbar dysfunction, slurred speech, ataxia, leuckodystrophy,demyelination sensorimotor polyneuropathy, scoliosis, ataxic gait, pes cavus, proximal muscle weakness and increased DTR
Inheritance	Unknown
Age/Examination	37y (37 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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