This website provides information on patients with an autosomal recessive intellectual disability syndrome related to the HERC1 gene, including clinical data, molecular data, management and research options.
Homozygous and compound heterozygous mutations in the HERC1 gene cause macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR; MIM#617011).
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 HERC1 gene.
Clinicians and researchers who identify a patient with a mutation in HERC1 are invited to submit this information to the database.
Ashwin Dalal, MD, DM, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India, firstname.lastname@example.org
Shagun Aggarwal, MD, DM, Nizam's Institute of Medical Genetics, Hyderabad, India, email@example.com
Aneek Das Bhowmik, PhD, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India, firstname.lastname@example.org