Phenotype #0000078648

Individual ID 00100448
Associated disease CDCBM7
Phenotype details Dysgenesis of the cerebellar vermis;Hypoplasia of the pons; Partial agenesis of the corpus callosum;Abnormality of the basal ganglia, polymicrogyria;neurodevelopmental delay;Congenital microcephaly;
Focal seizures;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 11:29:43 +01:00 (CET)
Date last edited 2017-03-02 12:53:00 +01:00 (CET)

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