Phenotype #0000078655

Individual ID 00100455
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Cerebellar dysplasia;Cerebellar vermis hypoplasia;
Partial agenesis of the corpus callosum;Thin corpus callosum; Abnormality of the basal ganglia;Polymicrogyria;Neurodevelopmental delay;Intellectual disability,severe;Congenital microcephaly;Nistagmus;Central visual loss;Focal seizures;Facial dysmorphisms
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 17:16:52 +01:00 (CET)
Date last edited 2017-03-02 12:55:39 +01:00 (CET)

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