Targeted gene under study:
FOXP4 (OMIM # 104155)
Abstract
Since the description of eight individuals with a heterozygous FOXP4 variant in 2021 by researchers from our centre, we have been contacted by several clinicians with patients with new variants in this gene and variable phenotype. In this study, we would like to collect clinical data on more individuals with FOXP4 syndrome to further elucidate the phenotypic spectrum associated with variants in this gene.
We kindly ask you to contact us if you have a patient with FOXP4 syndrome, so we can send you some additional information.
Coordinating clinician
Dr Saskia Koene – Saskia.Koene@radboudumc.nl
Institution
Radboudumc, Nijmegen, the Netherlands
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No