Global Variome shared LOVD

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Phenotype #0000078709 Individual ID 00100454 Associated disease CDCBM7 Phenotype details Cerebellar dysplasia;Hypoplasia of the pons;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic tetraparesis;Intellectual disability, severe;Congenital microcephaly;Optic nerve hypoplasia;Optic nerve atrophy;West syndrome;Thoracolumbar scoliosis 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 Johan den Dunnen Date created 2017-03-02 12:48:36 +01:00 (CET) Date last edited N/A

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