is a rare inherited condition that affects brain development and vision.

is a genetic condition causing delayed puberty and reduced smell.

is a genetic disorder causing delayed puberty, reduced smell, and heart defects.

is an inherited eye condition causing harmless yellow-white retinal spots.

is a lung disease caused by breathing in kaolin dust.

is a cancer causing abnormal blood vessel growth in skin and organs.

is a cancer causing skin lesions, often linked to weakened immunity (HIV).

is a rare blood vessel tumor that can be locally aggressive.

is a rare lymphatic disorder that can affect bones, chest, and organs.

is a rare genetic condition causing birth differences and developmental delays.

is a rare inherited condition with split hands or feet and nystagmus.

is a rare inherited disorder affecting cilia, often with reversed organs.

is a rare inherited kidney disease causing progressive interstitial scarring and failure.

is a rare vascular tumor disorder causing severe low platelets and bleeding.

is a rare genetic disorder causing birth differences and developmental challenges.

is an inflammatory vasculitis in children affecting blood vessels, especially coronary arteries.

is a rare genetic condition causing developmental delays, distinctive features, and seizures.

is a rare genetic epilepsy causing early seizures and developmental challenges.

is a genetic condition causing developmental delay, short stature, and facial differences.

is a genetic condition causing intellectual disability and other developmental challenges.

is a rare mitochondrial disorder affecting muscles, vision, and the heart.

is a rare inherited condition affecting facial features, hearing, and development.

is a rare inherited disorder causing progressive muscle weakness and hormonal changes.

is a genetic neuromuscular disorder (SBMA) causing progressive weakness, swallowing problems.