Phenotype #0000257418

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00334906
Associated disease	Gaucher, atypical
Phenotype details	Onset age 8 of myoclonus. Associated with ataxia, horizontal gaze palsy, mild splenomegaly and mild intellectual disability. Progressive course, death age 19.
Diagnosis/Initial	Unverricht-Lundborg disease like
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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