RISCkompleksi
RISCkompleksi is a term used to describe a group of symptoms and signs that can occur in individuals with a rare genetic disorder known as RISC syndrome. The term "RISC" stands for "Renal, Intracranial, Spinal, and Cardiac," reflecting the primary organ systems affected by the condition.
The syndrome is characterized by the presence of multiple congenital anomalies, including renal (kidney) abnormalities, intracranial
RISC syndrome is typically caused by mutations in the RISC3 gene, which is involved in the development
The diagnosis of RISCkompleksi is often made through a combination of clinical evaluation, genetic testing, and
RISCkompleksi is a complex condition that requires multidisciplinary care, involving specialists in genetics, nephrology, neurology, cardiology,