is a genetic disorder with early cataracts, intellectual disability, underdeveloped gonads (hypogonadism).

causes cataracts and abnormally small corneas from birth, impairing vision.

is a rare genetic disorder causing cataracts, kidney disease, and brain dysfunction.

is a rare, life-threatening autoimmune clotting disorder causing multi-organ failure.

is a genetic heart rhythm disorder triggered by stress or exercise.

is a genetic heart rhythm disorder causing stress-triggered arrhythmias, fainting, cardiac arrest.

is a rare inherited heart rhythm disorder triggered by exercise or stress.

is a rare inherited arrhythmia causing stress-triggered fainting and cardiac arrest.

is an inherited heart rhythm disorder causing stress-triggered arrhythmias, fainting, cardiac arrest.

is a rare inherited heart rhythm disorder causing dangerous arrhythmias during stress.

is a rare inherited disorder causing jaw, airway, feeding, and finger differences.

is a rare inherited small-vessel disease causing strokes and white matter changes.

is a rare spinal tumor near the cauda equina causing nerve compression.

is a tumor near lower spinal nerves causing pain, weakness, bladder problems.

is a rare, usually benign neuroendocrine tumor in the lower spine.

is a medical emergency from compression of lower spinal nerve roots.

is a rare congenital condition causing tail-like appendage and hearing loss.

is a rare birth condition with duplicated lower spine and pelvic organs.

is a rare birth condition affecting lower spine, legs, bowel, and bladder.

is a rare birth disorder affecting lower spine, legs, and pelvic organs.

is severe, burning pain after nerve injury, with swelling and skin changes.

is a benign blood vessel malformation that can bleed or compress tissues.

is a rare benign vascular malformation causing colon bleeding and anemia.

is a benign blood vessel malformation causing soft, bluish facial swelling.