involves recurrent episodes of inflammation without infection, due to innate immune system.

is a genetic disorder causing recurrent childhood fevers and inflammation without infection.

is a rare genetic condition causing inflammatory flares and frequent infections.

is a genetic disorder with overactive inflammation, recurrent infections, and amylopectin buildup.

is a rare disorder causing recurrent inflammation, fevers, and skin rashes.

is a noncancerous autonomic nerve tumor; symptoms vary by location.

is a disorder disrupting automatic control of blood pressure, heart rate.

is a tumor of nerves controlling heartbeat, digestion, and sweating.

is nerve damage affecting automatic functions: heart, blood pressure, digestion, sweating.

is nerve damage affecting automatic functions like heart rate, blood pressure, digestion.

is an inherited immune disorder causing absent antibodies and recurrent infections.

refers to changes in non-sex chromosomes, affecting development and health.

is a rare inherited blood disorder reducing hemoglobin, causing anemia.

is a rare genetic disorder causing distinctive facial, skeletal, and genital differences.

is a rare autosomal-dominant, adult-onset disorder causing progressive proximal (hip/shoulder) muscle weakness.

is an inherited disorder causing progressive kidney disease, hearing, and eye problems.

is an inherited disorder causing bone marrow failure and abnormal blood formation.

is a genetic hearing disorder affecting auditory nerve signaling, dominantly inherited.

is an inherited hearing disorder disrupting inner ear–brain sound signaling.

is a genetic bone disorder causing short trunk, flattened vertebrae, back problems.

is an inherited disorder causing progressive balance and coordination (ataxia) problems.

is a hereditary condition causing progressive balance, coordination, and speech problems.

is an inherited brain disorder causing progressive ataxia and vision loss.

is an autosomal dominant disorder causing progressive balance and coordination problems.