Status:
UNKNOWN
Better Delineation of CDK13 Related Phenotype and Epigenetic Signature.
Lead Sponsor:
University Hospital, Montpellier
Conditions:
Congenital Heart Defects
Dysmorphic Facial Features and Intellectual Developmental Disorder
Eligibility:
All Genders
Brief Summary
CDK13 related disorder is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and malformation syndrome. The aims of this study are first t...
Detailed Description
The investigators aim to better understand and delineate the genetic syndrome CDK13 This genetic disorder was described in Sepember 2016 in Nature Genetics (PMID 27479907). Since this first publicati...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- \- CDK13 intragenic pathogenic SNV (Single Nucleotide Variant)
- Exclusion criteria:
- no pathogenic SNV in CDK13
- no consent for the study
Exclusion
Key Trial Info
Start Date :
November 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 30 2020
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT04382573
Start Date
November 1 2019
End Date
December 30 2020
Last Update
May 14 2020
Active Locations (1)
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1
UH Montpellier
Montpellier, France, 34295