Cornelia de Lange syndrome
Conditions
Interventions
Children with Cornelia de Lange syndrome:NA
Sponsors
The First Affiliated Hospital of Guilin Medical University
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1.The case conforms to the first international consensus diagnostic criteria for CdLS in 2018. 2.Children under the age of 18 (based on their actual age at the time of enrollment in the study) and their parents; 3.Through whole exome sequencing (WES) of the family, pathogenic gene variations related to Cornelia De Lange syndrome were clearly identified. 4.The patient is from Guangxi Zhuang Autonomous Region.
Exclusion criteria
Exclusion criteria: 1.Unclear diagnosis: Children for whom the whole-exome sequencing (WES) test of the family has not been completed, or for whom the test results have not identified pathogenic gene variations. 2.Age >= 18 years (based on the actual age at the time of study enrollment); 3.Children for whom the follow-up cannot be completed (including data supplementation and information update) due to reasons such as the refusal of family members, loss of contact information, or relocation to another place; 4.The child who died prematurely; 5.Children who are not from Guangxi;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| clinical phenotype; | — |
Countries
China
Contacts
Public ContactHou Ren
The First Affiliated Hospital of Guilin Medical University
Outcome results
None listed