Phenotype #0000078699

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100452
Associated disease	CDCBM7
Phenotype details	Cerebellar vermis hypoplasia;Hypoplasia of the pons;Agenesis of corpus callosum;Abnormality of the basal ganglia;Simplified gyral pattern; Neurodevelopmental delay;Hypotonia;Congenital microcephaly;Optic nerve hypoplasia;Seizures;Facial dysmorphisms
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	Johan den Dunnen
Date created	2017-03-01 17:27:45 +01:00 (CET)
Date last edited	N/A

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