is an inherited eye disease causing gradual vision loss, especially at night.

is a rare genetic condition affecting development of brain, eyes, ears, kidneys.

is a rare genetic condition affecting growth, head size, and limb development.

is a rare genetic condition causing hearing loss, seizures, and developmental problems.

is a rare movement disorder often improving dramatically with levodopa treatment.

is a rare inherited movement disorder that often improves with levodopa.

is a rare inherited disorder causing low norepinephrine and low blood pressure.

is a rare inherited movement disorder affecting dopamine signaling from infancy.

is a rare fatty growth on the spinal cord present at birth.

is a rare heart defect where both arteries arise from left ventricle.

is a congenital heart defect where both arteries arise from one ventricle.

is a rare birth heart defect affecting blood flow and organ placement.

is a rare birth heart defect affecting blood flow from the heart.

is a congenital heart defect where both major arteries arise abnormally.

is a congenital heart defect affecting blood flow from the heart.

is a rare heart defect with misplaced arteries and a hole.

is a rare genetic condition causing webbed skin and joint problems.

is a rare birth condition affecting the uterus, vagina, and one kidney.

is a rare heart valve difference with two openings instead of one.

is a rare inherited skin condition causing dark, lacy skin folds.

is a genetic condition causing developmental differences and characteristic physical features.

is a rare inherited disorder affecting protein glycosylation and multiple body systems.

is a rare inherited disorder affecting sugar processing and body development.

is a rare inherited disorder affecting glycosylation, muscles, and the brain.