Phenotype #0000078651

Individual ID 00100451
Associated disease CDCBM7
Phenotype details Cerebellar vermis hypoplasia;Hypoplasia of the pons;Agenesis of corpus callosum;
Abnormality of the basal ganglia;
Perisylvian polymicrogyria;Hypoplasia of the optic nerve;Neurodevelopmental delay;Generalized hypotonia;Intellectual disability,severe;Congenital microcephaly;Congenital bilateral ptosis;Strabismus;
Optic atrophy;Blindness;Epilepsy;Facial dysmorphisms
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
Date created 2017-02-27 12:55:10 +01:00 (CET)
Date last edited 2017-03-02 12:54:55 +01:00 (CET)

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