Phenotype #0000086985

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00109896
Associated disease	AT
Phenotype details	see papers; ..., 12m-48m-ataxia; mild phenotype; no telangiectasia; no malignancy; no respiratory disease; no immuno-deficiency;
Diagnosis/Initial	ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AT
Age/Examination	>16y (later than 16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Patrick Concannon
Database submission license
Created by	Patrick Concannon
Date created	2012-01-11 23:21:34 +01:00 (CET)
Date last edited	2024-11-07 15:09:45 +01:00 (CET)

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