is a rare inherited disorder causing very high triglycerides and pancreatitis risk.

is a rare inherited disorder causing extremely high triglycerides and pancreatitis risk.

is an inherited condition causing inward-turned feet, sometimes with limb differences.

is an inherited condition causing one or both feet to turn inward.

is an inherited condition causing inward-turned feet, usually present at birth.

is an inherited condition causing inward-turned feet, sometimes with other leg differences.

is a rare inherited autoinflammatory disorder causing cold-triggered rashes, fevers.

is an inherited disorder where cold triggers hives (urticaria), swelling, and itching.

is an inherited colorectal cancer syndrome not caused by Lynch syndrome.

is an inherited disorder with high cholesterol and triglycerides, increasing heart disease.

is a rare inherited disorder causing involuntary mirrored movements.

causes blocked tear drainage from birth and often watery, sticky eyes.

is an inherited eye movement disorder causing trouble looking downward.

is an inherited disorder causing sudden jerks from overactive brain cortex.

is a rare inherited skin condition causing multiple harmless collagen growths.

is an inherited disorder causing skin telangiectasias and higher throat cancer risk.

is an inherited disorder causing multiple benign skin tumors, often on scalp.

is an inherited language disorder affecting speech and communication development.

is a rare inherited disorder causing finger joint damage and short digits.

is an inherited heart muscle disease that weakens and enlarges the heart.

is an inherited heart muscle disease causing weakness and abnormal heart rhythms.

is an inherited eye condition with retinal deposits (drusen) affecting vision.

is a rare inherited nerve disorder affecting automatic body functions and sensation.

is an inherited blood protein (fibrinogen) problem causing bleeding or clots.