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GenomeConnect is an online registry designed by the Clinical Genome Resource (ClinGen) for people who are interested in sharing de-identified genetic and health information to improve understanding of genetics and health. Registry participants can also connect with other individuals and families through GenomeConnect’s participant matching feature. Participants can also learn about other research opportunities and, potentially, receive updates about their genetic testing results.

Short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) is caused by compound heterozygous mutation in the PRMT7 gene on chromosome 16q22.

Arginine methylation is an apparently irreversible protein modification catalyzed by arginine methyltransferases, such as PMT7, using S-adenosylmethionine (AdoMet) as the methyl donor. Arginine methylation is implicated in signal transduction, RNA transport, and RNA splicing (Miranda et al., 2004).

Global Genes® is one of the leading rare disease patient advocacy organizations in the world. We build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.