SAMD9L-related spectrum and myeloid neoplasm risk

Definition

A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.

Also known as SAMD9L-related spectrum and myeloid neoplasm risk — per MONDO