Albums and FRAME Projects tagged with "Autosomal dominant"

  • Coffin-Siris syndrome is a genetic condition that affects multiple body systems. Variants in the ARID1B gene are the most common [...]

  • Gorlin Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare genetic disorder that predisposes individuals to [...]

  • Nager Syndrome (also known as acrofacial dysostosis) is a rare genetic condition involving physical anomolies and some level of hearing [...]

  • Noonan syndrome (NS) is a variably expressed, multisystem disorder with an estimated prevalence of 1 in 1,000 – 2,500 births. [...]

  • Costello syndrome affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial [...]

  • The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes [...]

  • Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the [...]

  • CFC syndrome is a rare genetic condition that typically affects the heart (cardio), facial features (facio) and skin (cutaneous). Children [...]