This website provides information on patients with mutations in the FOXP1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FOXP1 gene is a multisystem disorder characterized by intellectual disability, speech and language impairment, sensory integration disorders, motor delay and recurrent facial features including a high broad forehead, bent and down slanting palpebral fissures, ptosis and/or blepharophimosis, and a bulbous nasal tip. Behavioral problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. Not all individuals with a mutation in the FOXP1 gene have these features.

More patient data is needed to examine the phenotype of patients with a FOXP1 mutation in more detail and to identify the consequences of these mutations more accurately.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FOXP1 gene.

Saskia Koene, MD, PhD, Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands, s.koene@lumc.nl

Bert Callewaert, MD, PhD, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, bert.callewaert@ugent.be