Phenotype #0000074202

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00081421
Associated disease	GLUT1DS1
Phenotype details	5m myoclonic seizures; severe intellectual disability (IQ ~50); “clumsy” in the mornings, with clear improvement after breakfast, but never noticed episodes that might fit with a diagnosis of paroxysmal dyskinesia
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Erik-Jan Kamsteeg
Database submission license	No license selected
Created by	Erik-Jan Kamsteeg
Date created	2017-01-23 09:40:00 +01:00 (CET)
Date last edited	2017-01-27 13:05:21 +01:00 (CET)

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