is an inherited kidney tumor disorder caused by gene changes.

is a rare inherited disorder affecting how the lungs and airways develop.

is a genetic condition causing abnormal airway or chest structure development.

is a rare genetic condition affecting sebaceous glands and skin health.

is a genetic muscle disorder that weakens the skeletal muscles.

is an inherited skin growth that may form benign tumors or hamartomas.

is a genetic disorder affecting the skin and blood vessels.

is a group of inherited growths that develop in soft tissues.

is an inherited kidney disorder causing protein loss and often treatment resistance.

is a genetic condition affecting the tissue beneath the skin.

is an inherited eye disorder affecting the cornea’s outer layers.

describes inherited risk of certain infections caused by specific germs.

is an inherited condition often causing brain or spinal cord malformations.

is a genetic syndrome marked by cerebellar malformation and variable birth differences.

is a genetic syndrome often involving Dandy-Walker malformation and related developmental differences.

is a genetic condition where the brain's connecting band forms abnormally.

is a genetic syndrome mainly causing differences in limb development.

is a genetic syndrome causing shortened or missing limbs and other features.

is an inherited condition causing esophageal birth defects and other features.

is a genetic condition causing small jaw, cleft palate, and breathing problems.

is an inherited disorder that affects multiple organs, especially the kidneys.

is an inherited disorder causing blood clots, low platelets, and organ damage.

is a rare inherited condition affecting the windpipe's structure and breathing.

is a temporary inherited thyroid hormone deficiency present at birth.