is a rare inherited condition causing high ferritin and early-onset cataracts.

is an inherited disorder causing low phosphate, bone weakness, and hypercalciuria.

is a rare genetic condition causing sparse hair and recurring skin blisters.

is a rare inherited muscle disease causing slowly worsening weakness.

is a rare inherited muscle disease causing weakness, contractures, and ophthalmoplegia.

is an inherited bone marrow disorder that reduces blood cell production.

is an inherited Parkinson disease that usually begins later in adulthood.

is an inherited condition causing skin and uterine tumors, sometimes kidney cancer.

is an inherited condition causing lifelong swelling from lymph fluid buildup.

is an inherited disorder causing chronic swelling from abnormal lymph vessels.

is an inherited condition causing chronic swelling from lymph fluid buildup.

is an inherited condition causing lifelong swelling from abnormal lymph drainage.

is an inherited blood disorder that reduces oxygen delivery in the body.

is an inherited condition causing colon polyps and increased colorectal cancer risk.

causes mixed colon polyps and raises the risk of colorectal cancer.

is an inherited condition causing multiple colon polyps and increased cancer risk.

is an inherited nerve disorder causing muscle weakness, wasting, and sensory loss.

is a rare inherited nerve disorder causing weakness, numbness, and vision loss.

is an inherited nerve disorder causing weakness, numbness, and progressive foot problems.

is an inherited nerve disorder causing muscle weakness, wasting, and numbness.

is a rare inherited disorder affecting mucous membranes, skin, and hair.

is an inherited muscle disease causing weakness and early breathing problems.

is a rare inherited muscle disease linked to high lactic acid.

is an inherited disorder causing abnormal skin, nerve, and blood vessel development.