Phenotype #0000078661

Individual ID 00100461
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Cerebellar vermis hypoplasia;Abnormality of the pons;Corpus callosum agenesis;Abnormality of the basal ganglia;Simplified gyral pattern;Neurodevelopmental delay;Spastic tetraparesis;Intellectual disability,severe;Congenital microcephaly;Focal seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Enza Maria Valente
Database submission license No license selected
Created by Enza Maria Valente
Date created 2017-02-27 18:03:00 +01:00 (CET)
Date last edited 2017-03-02 12:59:47 +01:00 (CET)

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