Status:
UNKNOWN
Better Delineation of YY1 Related Phenotype and Epigenetic Signatures.
Lead Sponsor:
University Hospital, Montpellier
Conditions:
YY1 Related Disorder
Eligibility:
All Genders
Brief Summary
YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abno...
Detailed Description
The investigators aim to better understand and delineate the genetic syndrome YY1 (a.k.a. Gabriele-de-Vries syndrome). This genetic disorder was described in June 2017 in the American Journal of Huma...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- \- YY1 intragenic pathogenic SNV (Single Nucleotide Variant)
- Exclusion criteria:
- no pathogenic SNV in YY1
- no consent for the study
Exclusion
Key Trial Info
Start Date :
May 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2020
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT04381715
Start Date
May 1 2020
End Date
December 1 2020
Last Update
May 14 2020
Active Locations (1)
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1
UH Montpellier
Montpellier, France, 34295