This website provides information on patients with mutations in the intellectual developmental disorder with dysmorphic facies and ptosis (BRPF1 gene), including clinical data, molecular data, and management and research options.
The syndrome caused by mutations in the BRPF1 gene called intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP). This multisystem disorder characterized by intellectual disability, ptosis/blepharophimosis, poor growth, hypotonia and seizures. Not all individuals with a mutation in the BRPF1 gene have these features.
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 BRPF1 gene.
Philippe Campeau, MD, Principal Investigator, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, firstname.lastname@example.org
Farhad Abbasi, MD, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, email@example.com