are genetic cilia disorders causing significant skeletal abnormalities and organ issues.

is a group of genetic disorders affecting cellular cilia and organs.

is a rare genetic autoinflammatory disease starting in infancy, causing widespread inflammation.

is a rare skin condition causing thin, round patches on palms/soles.

is a rare genetic disorder causing manganese buildup, dystonia, polycythemia, liver cirrhosis.

is heart dysfunction linked to cirrhosis, affecting stress response and rhythms.

is an inherited disorder affecting the liver and the body's energy use.

is a rare inherited urea cycle disorder causing toxic blood ammonia.

is a genetic protein-processing (urea cycle) disorder causing dangerous ammonia buildup.

is a genetic liver urea cycle disorder causing high ammonia and confusion.

is a rare genetic disorder affecting development and brain function.

is a rare congenital overgrowth syndrome with capillary and lymphatic malformations.

is a rare genetic disorder causing developmental delays and intellectual disability.

is a severe X-linked enzyme deficiency causing chronic hemolytic anemia.

is a rare inherited urea cycle disorder causing dangerous ammonia buildup (hyperammonemia).

is an inherited hormone disorder affecting cortisol, aldosterone, and androgen production.

is a genetic adrenal disorder causing cortisol and aldosterone deficiency, salt-wasting.

is an inherited adrenal disorder causing androgen excess without salt-wasting crises.

is a rare inherited disorder causing severe adrenal and sex-hormone deficiency.

is a kidney tumor in newborns, usually benign and surgically curable.

causes recurring, itchy, noncontagious pustules around hair follicles, especially face.

is an inherited metabolic disorder causing galactose toxicity; needs lifelong dietary restriction.

is a genetic disorder causing impaired brain energy from reduced glucose transport.

is a rare, slow-growing B-cell leukemia with low blood counts.