Phenotype #0000331316

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00441933
Associated disease	?
Diagnosis/Initial	myoclonus
Diagnosis/Definite	-
Phenotype details	see paper; ..., dystonia; myoclonus; chorea; action tremor; spasticity; growth retardation; speech delay, spasticity, dysphagia
Inheritance	Familial, autosomal recessive
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	18m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-15 14:04:23 +01:00 (CET)
Date last edited	N/A

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