This website provides information on patients with mutations in the FEM1C gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the FEM1C gene is a multisystem disorder characterized by:
• Neurodevelopmental delay
• Absent or severely reduced speech
• Pyramidal signs
• Limb ataxia
Not all individuals with a mutation in the FEM1C 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 FEM1C gene.
Wojciech Pokrzywa, PhD, International Institute of Molecular and Cell Biology in Warsaw, Warsaw, Poland, wpokrzywa@iimcb.gov.pl
Natalia Szulc, MSc, International Institute of Molecular and Cell Biology in Warsaw, Warsaw, Poland, nszulc@iimcb.gov.pl