Based on the described SLC35A1-CDG patients, we define seizures, microcephaly, ataxia, developmental delay, and macrothrombocytopenia as the more common clinical characteristics of this type of disease and add café-au-lait spot, ear tag, and umbilical hernia as possibly new associated phenotypes. This evidence concerns the gene SLC35A1 and Macrothrombocytopenia.