\"SAMD9 Deficiency\" \u2013\u00a0What Is It?<\/h2><\/div>
<\/div><\/div><\/div><\/div>
<\/div><\/div><\/div>
SAMD9 deficiency is a disease caused by pathogenic variants<\/span>, i.e., genetic changes in the SAMD9 <\/em>gene. It is also known as MIRAGE syndrome, an acronym made up of the most frequently observed symptoms: M<\/strong>yelodysplasia(disease of the bone marrow), i<\/strong>nfection, r<\/strong>estriction of growth, a<\/strong>drenal hypoplasia (underdevelopment of the adrenal glands), g<\/strong>enital abnormalities and e<\/strong>nteropathy (disease of the intestines). In addition, numerous other abnormalities can occur in various organs. The disease is often fatal within the first ten years of life, usually due to severe infections.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>
<\/i><\/span>
SAMD9 Deficiency \u2013 What Is It? (This Section)<\/div><\/li><\/ul><\/div><\/div>