Condition: Myelocerebellar Disorder


rs1554341158 in SAMD9L gene and Myelocerebellar Disorder PMID 28202457 2017 Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

PMID 27259050 2016 Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.