Phenotype #0000078643

Individual ID 00100442
Associated disease CDCBM-1
Phenotype details Cerebellar dysplasia;Cerebellar vermis hypoplasia;Abnormality of brainstem morphology;Hypoplasia of the pons;
Aplasia/Hypoplasia of the corpus callosum;
Abnormality of the basal ganglia;Neurodevelopmental delay;
Generalized hypotonia;Intellectual disability, moderate;
Strabismus;
Nystagmus;
Depigmented fundus
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