This website provides information on patients with mutations in the ARMC9 gene, including clinical data, molecular data, management and research options.
Homozygous and compound heterozygous pathogenic variations in the ARMC9 gene lead to Intellectual disability, delayed development, severe motor and speech disability, abnormal eye movements (often with ptosis), postaxial polydactyly (in some) and seizures (in some).
Brain imaging shows the molar tooth sign in all patients as well as dysplasia of superior cerebellar folia.
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 ARMC9 gene.
Ashwin Dalal, MD, DM, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India, firstname.lastname@example.org
Anjana Kar, PhD, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India, email@example.com
Shubha R Phadke, MD, Dm, Professor , Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, firstname.lastname@example.org