Phenotype #0000078657

Individual ID 00100457
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Cerebellar dysplasia;Abnormality of the cerebellar vermis;Thin corpus callosum;Abnormality of the basal ganglia;Perisylvian polymicrogyria;Neurodevelopmental delay;Spastic hemiparesis;Ataxia;Intellectual disability,mild;Congenital microcephaly;Strabismus;Lumbar scoliosis
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Enza Maria Valente
Database submission license No license selected
Created by Enza Maria Valente
Date created 2017-02-27 17:42:16 +01:00 (CET)
Date last edited 2017-03-02 12:58:12 +01:00 (CET)

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