This website provides information on patients with mutations in the FBRSL1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FBRSL1 gene is a multisystem disorder characterized by respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay, no active speech, contractures, heart defects, cleft palate, facial dysmorphism and distinctive skin creases in the first year of life.

Not all individuals with a mutation in the FBRSL1 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 pathogenic variants in the FBRSL1 gene.

Silke Pauli, Prof. Dr., Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany, silke.pauli@med.uni-goettingen.de

Annette Borchers, Prof. Dr., Department of Biology, Molecular Embryology, Marburg University, Marburg, Germany, borchers@uni-marburg.de