Details for phenotype: CHARGE syndrome

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EndoNet ID: ENP00135

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Name

CHARGE syndrome

General information

This phenotype is not pathologic

Links to other resources

OMIM	214800
Disease database	32233

Phenotype triggers

• no activity (knock out experiment or RNAi) of PLXND1 ui-button
  in brain ui-button
  • Mutations in Sema3e are associated with CHARGE syndrome. [1]

EndoNet at the Institut for Bioinformatics UMG Göttingen