A review of the genome sequencing data of proband K.II-1, with childhood oculomotor apraxia and hypotonia, did not return any rare coding variants (MAF < 0.001) nor CNVs in any of the Joubert or ataxia with oculomotor apraxia (OMIM# 208920, APTX)36,37 genes. The gene discussed is APTX; the disease is Oculomotor apraxia.