Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000078641 Individual ID 00100440 Associated disease CDCBM1 Phenotype details Cerebellar dysplasia;Abnormality of brainstem morphology;Hypoplasia of the pons;Dysgenesis of corpus callosum;Neurodevelopmental delay; Intellectual disability, borderline 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 2017-02-24 16:35:05 +01:00 (CET) Date last edited 2017-02-24 19:52:03 +01:00 (CET)

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