Phenotype #0000078656

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100456
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Cerebellar dysplasia; Abnormality of the cerebellar vermis; Thin corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic hemiparesis;Ataxia; Intellectual disability, mild;Congenital microcephaly;Strabismus;Optic nerve hypoplasia (left);
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Enza Maria Valente
Database submission license	No license selected
Created by	Enza Maria Valente
Date created	2017-02-27 17:26:01 +01:00 (CET)
Date last edited	2017-03-02 12:56:56 +01:00 (CET)