has material basis in germline mutation in SAMD9L ataxia-pancytopenia syndrome https://github.com/monarch-initiative/mondo/issues/5654 https://www.malacards.org/card/ataxia_pancytopenia_syndrome MEDGEN:230896 Orphanet:2585 myelocerebellar disorder UMLS:C1327919 SCTID:768556005 MONDO:0008038 GARD:0003865 ATXPC ataxia-pancytopenia syndrome OMIM:159550 A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. NCIT:C176909 MESH:C563233 obsolete disorder of medulla oblongata hereditary cerebellar ataxia