Phenotype #0000078647

Individual ID 00100447
Associated disease CDCBM7
Phenotype details cerebellar dysplasia;Cerebellar vermis hypoplasia;Agenesis of corpus callosum;
Abnormality of the basal ganglia;
Polymicrogyria;
Schizencephaly;
Abnormality of the cranial nerves;neurodevelopmental delay;Spastic tetraparesis;intellectual disability,severe;ptosis;strabismus;Complex focal seizures
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 11:14:56 +01:00 (CET)
Date last edited 2017-03-02 12:52:30 +01:00 (CET)

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