SAMD9L-related spectrum and myeloid neoplasm risk is a genetic condition that increases the chance of developing certain blood cancers called myeloid neoplasms. This condition is caused by a change in the SAMD9L gene and leads to a predisposition to issues in the blood and bone marrow. People with this condition may experience variable health issues. The presentation can include problems with coordination (ataxia) and low blood cell counts (cytopenia), and in some cases, more severe conditions such as myelodysplastic syndrome, monosomy 7 (a change in chromosome 7 seen in acute myelogenous leukemia), or bone marrow failure.

Common symptoms may include ataxia, which is difficulty with coordination, and cytopenia, meaning lower than normal blood cell counts. In some cases, signs of myelodysplastic syndrome, bone marrow failure, or changes in the blood associated with monosomy 7 can occur. These features may vary from person to person.

This condition is caused by a mutation in the SAMD9L gene. The genetic change increases the risk for developing myeloid neoplasms by affecting the normal function of blood cell production.