Phenotype #0000254739

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00359357
Associated disease	AHC
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Intellectual disability (HP:0001249)
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Elisa De Grandis
Database submission license	No license selected
Created by	Elisa De Grandis
Date created	2021-03-22 17:42:10 +01:00 (CET)
Date last edited	2021-04-03 18:00:06 +02:00 (CEST)

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