Phenotype #0000347631

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459626
Associated disease	AT
Phenotype details	12m-ataxia; 15m-walk; telangiectasia; no malignancy; respiratory disease; immuno-deficiency
Diagnosis/Initial	ataxia-telangiectasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AT
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-11 13:21:29 +01:00 (CET)
Date last edited	N/A

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