Phenotype #0000086990

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00109924
Associated disease	AT
Phenotype details	see paper; ..., 18m-ataxia; telangiectasia; no malignancy; respiratory disease; no immuno-deficiency
Diagnosis/Initial	ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AT
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	00y18m
Phenotype/Onset	ataxia
Protein	-
Owner name	Patrick Concannon
Database submission license
Created by	Patrick Concannon
Date created	2012-01-03 15:54:12 +01:00 (CET)
Date last edited	2024-11-07 15:13:35 +01:00 (CET)

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