Phenotype #0000086988

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00109922
Associated disease	AT
Phenotype details	see paper; ..., 72m-ataxia; 24y-deceased; 10m-wheelchair bound; telangiectasia; 24y-dermato-sarcoma protuberans, 24y-fibro-sarcoma protuberans
Diagnosis/Initial	ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AT
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	72m-ataxia
Protein	-
Owner name	Frans BL Hogervorst
Database submission license	No license selected
Created by	Frans BL Hogervorst
Date created	2011-12-14 15:45:47 +01:00 (CET)
Date last edited	2024-11-07 12:31:35 +01:00 (CET)

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