This website provides information on patients with mutations in the HHAT (Hedgehog acyltransferase) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the HHAT gene is a multisystem disorder characterized by:
• Agenesis of corpus callosum
• Intellectual disability
• Cerebellar vermis hypoplasia
• Short stature
• Skeletal dysplasia
• Sex reversal
• Elevated creatine kinase
Not all individuals with a mutation in the HHAT 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 HHAT gene.
Katta Mohan Girisha, MD, DM Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Udupi, Karnataka, India, firstname.lastname@example.org
Shruti Pande, BDS, Kasturba Medical College, Manipal Academy of Higher Education, Udupi, Karnataka, India, email@example.com