Kids First CCDD Data Available for Access-title-h1

Kids First CCDD Data Available for Access

The Kids First Data Resource Center is pleased to announce that whole genome sequence (WGS) data for the “Congenital Cranial Dysinnervation Disorders and Related Birth Defects” project (Accession Number: phs001247.v1.p1 ) is now available to the biomedical research community.

Congenital Cranial Dysinnervation Disorders (CCDDs) are developmental abnormalities of one or more cranial nerves, typically resulting in weakness of eye and/or face movement. The goal of this project, led by Dr. Elizabeth Engle, is to generate WGS data to identify shared genetic pathways among CCDDs. This project will provide insight into the genetic aspects of CCDDs.

To search, access, and analyze this dataset, apply for access through NIH’s Database of Genotypes and Phenotypes (dbGaP). Once approved, a user will receive instructions from dbGaP on how to access the data housed by the Kids First Data Resource Center (DRC). For help with this dataset, you may contact

You can view abstracts for additional Kids First projects and estimated data release dates on the Kids First X01 project page. For questions regarding the Kids First program, please email

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Please contact Bobby Moulder, Children’s Hospital of Philadelphia.

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