Genetic analysis revealed a homozygous likely pathogenic frameshift variant (c.1286_1288delAGA) in the ATP8A2 gene, further implicating ATP8A2 in the pathogenesis of CAMRQ syndrome (Alsahli et al. 2018; Martín‐Hernández et al. 2016; Onat et al. 2013; Cacciagli et al. 2010; Coleman et al. 2009). This evidence concerns the gene ATP8A2 and cerebellar ataxia, intellectual disability, and dysequilibrium.