In comparison, subject UW 36–3 carried the same homozygous CC2D2A c.3364C>T (p.P1122S) mutation but no additional NINL variants (or rare deleterious variants in other JBTS genes) and presented with the “pure JBTS” phenotype, consisting only of the MTS with associated ataxia, developmental delay and respiratory rhythm disturbance (Fig 4j). This evidence concerns the gene NINL and cerebellar ataxia.