is a rare genetic condition affecting brain and limb development.

is a rare genetic disorder affecting brain, arms, heart, and kidneys.

is a genetic condition affecting the heart and upper limbs.

is a rare genetic condition affecting growth and development.

is a rare inherited disorder that can affect brain development and movement.

is a rare inherited disorder causing high homocysteine, vascular and neurologic complications.

is a rare inherited disorder that prevents proper processing of vitamin B12.

is a rare genetic disorder affecting development, metabolism, and sometimes kidney function.

is an inherited disorder causing extremely high cholesterol and early heart disease.

is a painful eyelid bump caused by an infected oil gland.

is a tender, red bump on the eyelid from an infected gland.

is a rare genetic disorder affecting side-to-side eye movement and spine shape.

is a rare pituitary gland cancer that makes excess hormones.

is an allergic reaction to horned turban snails or their proteins.

causes a drooping eyelid, smaller pupil, and reduced facial sweating.

is a rare reflex epilepsy triggered by hot water on the head.

is a rare seizure disorder triggered by hot water exposure.

is a rare epilepsy triggered by hot water touching the body.

is a lung inflammation caused by breathing in certain airborne allergens.

is a rare genetic disorder causing bone marrow failure and developmental problems.

is a rare genetic disorder affecting brain development and cell energy production.

is a rare genetic mitochondrial disorder causing variable brain and body symptoms.

is a rare mitochondrial disorder causing developmental delays, weakness, and serious illness.

is a severe inherited mitochondrial disorder affecting newborns' brain and heart.