\"SAMD9L Deficiency\" \u2013\u00a0What Is It?<\/h2><\/div>
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SAMD9L deficiency, also known as ataxia-pancytopenia syndrome, is caused by pathogenic variant<\/span>s, i.e., genetic changes, in the SAMD9L <\/em>gene. It is characterized by cerebellar ataxia (a disorder of movement coordination due to damage in the cerebellum) and various forms of cytopenia (reduction of cells in the blood; can affect red or white blood cells or platelets). In addition, those affected have an increased risk of bone marrow failure, myelodysplastic syndrome (disease of the bone marrow), and acute myeloid leukemia (AML).<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>
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SAMD9L Deficiency \u2013 What Is It? (This Section)<\/div><\/li><\/ul><\/div><\/div>