Phenotype #0000087797

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00112233
Associated disease	HKPX
Phenotype details	male infant with generalized stiffness that was observed from the first 3 days of life. He showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam.
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2007-08-07 12:00:00 +02:00 (CEST)
Date last edited	N/A

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