Phenotype #0000292495

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00399384
Associated disease	EPM
Phenotype details	see paper; ..., 2y-ataxia; 6y-myoclonus; 10y-generalized tonic clonic seizures; drop attacks; scoliosis, pes cavus; highest CK 500 IU; 14y-wheelchair bound
Diagnosis/Initial	progressive myoclonus epilepsy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EPM6
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-20 12:49:03 +01:00 (CET)
Date last edited	2022-01-20 12:57:15 +01:00 (CET)

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