What is an extremely rare genetic disease? (not disorder)?

i need an extremely rare disease for my health science tech. class. it needs to be so rare that i can find just enough info on it to give the bare facts on it and have not to elaborate too much with stuff, such as 200 intresting facts. that would be swell. Thanks.

Osteogenesis Imperfecta. Extremely rare genetic disease breakable bones.

Try cherubism. Unless that is too rare. i doubt you could find 200 facts on it though.

Galactosemia, a rare genetic disorder, hampers the body's ability to process the sugar galactose. An infant with this disorder may appear normal at birth, but after a few days or weeks of drinking milk (which contains galactose), the child may begin to vomit, lose weight, and develop cataracts. The liver may fail to release stored glycogen into the blood, triggering hypoglycemia. Removing milk from the diet is the usual treatment

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