This website provides information on patients with mutations in the ACTL6A gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ACTL6A gene is a multisystem disorder characterized by learning disabilities/intellectual disability, speech delay, IUGR/small for age or failure to thrive in infancy, digital anomalies, cardiac defects and urogenital anomalies. Not all individuals with a mutation in the ACTL6A 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 ACTL6A gene.
Ronit Marom, MD PhD (Clinical Geneticist), Baylor College of Medicine, Houston TX, USA firstname.lastname@example.org
Mari Tokita, MD (Molecular Geneticist), Rady Children's Institute for Genomic Medicine, San Diego CA, USA, email@example.com