Targeted gene/syndrome under study
FOXP1 (OMIM # 605515)
FOXP1 syndrome is characterized by neurodevelopmental delay, a complex behavioural phenotype and dysmorphic features, in some cases combined with congenital defects of the heart, kidneys and/or urinary tract.
This study aims to describe the functional abilities of subjects with FOXP1 syndrome in daily life. We already have the results of 40 patients with FOXP1 syndrome in our database, however, this is not enough to draw conclusions about the functional abilities of patients at different ages.
The results may be used in the counseling of parents and will be made available in lay-men’s language/figures via patient organizations directly.
Data will be collected in an online questionnaire, to be filled out by parents.
We kindly ask you to contact us if you have a patient with FOXP1 syndrome, so we can send you some additional information. Especially adult patients are informative for this study.
Parents can contact us directly at email@example.com.
Dr. Saskia Koene – firstname.lastname@example.org
LUMC, Leiden, the Netherlands
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Yes