is a rare genetic neuromuscular disorder affecting eye movement and alignment.

is a usually harmless skin birthmark caused by changes in skin cells.

is a rare inherited eye movement and alignment disorder.

is a rare inherited disorder affecting teeth, gums, or both.

is a rare genetic condition that mainly affects tooth development.

is a rare inherited eye disorder that also affects the brain's cortex.

is a rare genetic eye disorder that can also affect cranial nerves.

is an inherited condition that damages the optic nerve and affects vision.

is a rare genetic disorder affecting the eyelids and nearby eye structures.

is an inherited disorder affecting parathyroid function and calcium and phosphate balance.

is a rare inherited condition causing Parkinson-like movement and nerve problems.

is a rare inherited kidney disease that can affect kidney function.

is an uncommon inherited condition that affects breathing and the lungs.

is a rare inherited eye disease affecting the retina and vision.

is a rare inherited eye disease affecting retinal blood vessels and vision.

is a rare genetic skin disease that affects the body's barrier.

is a rare genetic condition causing intellectual disability and other health problems.

is a rare inherited or immune-related condition that can affect many organs.

is a rare inherited thyroid disorder that affects hormone production and health.

is a rare inherited condition that causes tremors and sometimes movement problems.

is a rare inherited condition that raises the risk of certain tumors.

is a group of inherited conditions affecting the urinary and reproductive systems.

is an inherited condition affecting blood vessels throughout the body.

is a rare inherited condition that causes tumors in blood vessels.