Global Variome shared LOVD
VWF (von Willebrand factor)
LOVD v.3.0 Build 30b [
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Curator:
Daniel J Hampshire
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Phenotype #0000319068
Individual ID
00428132
Associated disease
SCA
Phenotype details
cerebellar ataxia, spasticity; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); cerebellar dysarthria (HP:0001260); MRI brain frontal atrophy; spasticity
Diagnosis/Initial
ataxia
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
46y (46 years)
Age/Diagnosis
-
Age/Onset
<41y
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2022-12-22 12:23:36 +01:00 (CET)
Date last edited
N/A
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