LAMA1 and Joubert syndrome: Finally, we examined the DECIPHER database23 (https://decipher.sanger.ac.uk/) for patients with LAMA1 mutations and found an additional UK family with a proband (NCL_Q98) who had been clinically labelled Joubert syndrome at the age of 14  months based on the presence of OMA and an abnormal MRI brain scan (Fig. 1, Tables 1 and 2, Supplementary Fig. 9).