Phenotype #0000078649

Individual ID 00100449
Associated disease CDCBM7
Phenotype details Cerebellar dysplasia;Dysgenesis of the cerebellar vermis;Hypoplasia of the pons;Dysgenesis of corpus callosum;Anomaly of the basal ganglia;
Perisylvian polymicrogyria;
Congenital microcephaly
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 11:53:10 +01:00 (CET)
Date last edited 2017-03-02 12:53:41 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.