eurocognitive endophenotyping: on the intersection of genetic disorders and psychiatry
Recruiting
- Conditions
- Cognitive DisordersDevelopmental disorders1008362410012562
- Registration Number
- NL-OMON38921
- Lead Sponsor
- niversitair Medisch Centrum Sint Radboud
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 60
Inclusion Criteria
-Presence of one of the following specific genetic variants
- EHMT1 mutation (Kleefstra Syndrome)
- KANSL1 mutation (Koolen-deVries syndrome)
- ABJRD11 mutation (KBG syndrome)
- 15q13 mutation ( Prader-Willi syndrome)
- Trisomie 21 (syndroom van Down).;-biological age above 3 years
Exclusion Criteria
Multiple genetic defects within one subject
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method