Global Variome shared LOVD

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Phenotype #0000078665 Individual ID 00100464 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Cerebellar dysplasia,Dysgenesis of the cerebellar vermis;Abnormality of the brainstem;Pontine hypoplasia; Thin corpus callosum;Abnormality of the basal ganglia; Perysilvian polymicrogyria, Neurodevelopmental delay;Hypotonia;Intellectual disability,severe;Congenital microcephaly;Strabismus;Nistagmus;Facial dysmorphisms Inheritance Isolated (sporadic) 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 18:24:57 +01:00 (CET) Date last edited 2017-03-02 13:01:02 +01:00 (CET)

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