Phenotype #0000179236

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00231016
Associated disease	AT
Phenotype details	<8y ataxia (HP:0001251); <15y no loss of walking; <15y oculomotor apraxia (HP:0000657); <15y ocular telangiectasia; no IgA deficiency (-HP:0002720)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	typical ATM
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-05-27 17:14:32 +02:00 (CEST)
Date last edited	N/A

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