Global Variome shared LOVD

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Phenotype #0000078663 Individual ID 00100463 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Cerebellar dysplasia;Cerebellar vermis hypoplasia;Abnormality of the brainstem;Hypoplasia of the pons;Thin corpus callosum;Abnormality of the basal ganglia;Perisylvian polymicrogyria;Neurodevelopmental delay;Generalized hypotonia;Dyskinesia;Dystonia;Intellectual disabikity,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 18:18:20 +01:00 (CET) Date last edited 2017-03-02 13:00:27 +01:00 (CET)

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