Phenotype #0000257424

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00334930
Associated disease	PBD12A
Phenotype details	Onset age 8 ataxia, then TCS from age 12, on a background of normal developmental history prior to onset. Progressive severe ataxia. Hypertonia noted. Death age 35. (Affected brother not recruited)
Diagnosis/Initial	progressive myoclonus epilepsy , dementia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
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	2021-04-14 09:14:49 +02:00 (CEST)
Date last edited	N/A

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