Phenotype #0000078644

Individual ID 00100443
Associated disease CDCBM-1
Phenotype details Cerebellar dysplasia;
Cerebellar vermis hypoplasia;Abnormality of the brainstem;Hypoplasia of the pons;Dysgenesis of corpus callosum;
Abnormality of the basal ganglia;Neurodevelopmental delay;
Generalized hypotonia;Dystonia;Intellectual disability, moderate
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