Phenotype #0000078641

Individual ID 00100440
Associated disease CDCBM-1
Phenotype details Cerebellar dysplasia;Abnormality of brainstem morphology;Hypoplasia of the pons;Dysgenesis of corpus callosum;Neurodevelopmental delay;
Intellectual disability, borderline
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