Phenotype #0000343744

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455153
Associated disease	CWS5
Phenotype details	HP:0000750 Delayed speech and language development HP:0001270 Motor delay HP:0001300 Parkinsonism HP:0001250 Seizure NO signs of overgrowth Normal brain MRI
Diagnosis/Initial	Epileptic encephalopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	03y
Phenotype/Onset	Chilhood onset
Protein	-
Owner name	Maria Elena García Paya
Database submission license
Created by	Maria Elena García Paya
Date created	2024-10-02 07:56:29 +02:00 (CEST)
Date last edited	2024-10-02 09:13:39 +02:00 (CEST)

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