Phenotype #0000078642

Individual ID 00100441
Associated disease CDCBM-1
Phenotype details Cerebellar dysplasia;
Aplasia/Hypoplasia of the corpus callosum;Abnormality of the basal ganglia,Neurodevelopmental delay;Hypotonia early;Cerebellar ataxia;Intellectual disability, mild;Oculomotor apraxia;Sensorineural deafness
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