Betegségjelentés · Immunological

Ataxia-Telangiectasia

Ataxia-telangiectasia is caused by changes in both copies of ATM. It causes progressive loss of coordination from early childhood, small dilated blood vessels in the eyes and skin, immunodeficiency with recurrent chest infections, sensitivity to radiation and a high risk of blood cancers. Carrying a single ATM change is a separate, moderate breast cancer risk and is not covered by this report.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.