label: SAMD9L-Related Ataxia Pancytopenia Syndrome
label_lc: samd9l-related ataxia pancytopenia syndrome
description: "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."