SAMD9L-Related Ataxia Pancytopenia Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited syndrome caused by germline mutations of the SAMD9L gene. It is characterized by cerebellar ataxia, cytopenia in all cell lineages, and predisposition to myelodysplasia and myeloid leukemia.

**Synonyms:** - ATXPC - Ataxia-Pancytopenia Syndrome - Ataxia-Pancytopenia Syndrome - Ataxia-Pancytopenia Syndrome - SAMD9L-ATXPC