In consonance, our SAMD9L ataxia patients did not reveal abnormal blood cell counts, MDS or cytopenia in their longitudinal medical records, or loss of c.1877C > T SAMD9L heterozygosity detected by NGS or Sanger sequencing from blood white-cells DNA, thus ruling out SAMD9L partial or total haploinsufficiency in their haematological lineages. Here, SAMD9L is linked to cerebellar ataxia.