Global Variome shared LOVD

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Phenotype #0000078651 Individual ID 00100451 Associated disease CDCBM7 Phenotype details Cerebellar vermis hypoplasia;Hypoplasia of the pons;Agenesis of corpus callosum; Abnormality of the basal ganglia; Perisylvian polymicrogyria;Hypoplasia of the optic nerve;Neurodevelopmental delay;Generalized hypotonia;Intellectual disability,severe;Congenital microcephaly;Congenital bilateral ptosis;Strabismus; Optic atrophy;Blindness;Epilepsy;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 Enza Maria Valente Date created 2017-02-27 12:55:10 +01:00 (CET) Date last edited 2017-03-02 12:54:55 +01:00 (CET)

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