Phenotype #0000078650

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100450
Associated disease	CDCBM7
Phenotype details	Abnormality of the pons; Dysplastic corpus callosum; Abnormality of the basal ganglia; Polymicrogyria;Schizencephaly;neurodevelopmental delay;spastic tetraparesis;intellectual disability,severe;frequent vomiting
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2017-02-27 12:37:25 +01:00 (CET)
Date last edited	2017-03-02 12:54:18 +01:00 (CET)

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