LAMA1 and ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome: In order to assess the relative prevalence of molecular diagnoses of PTBHS and Joubert syndrome in patients with intellectual disabilities and developmental disorders, we searched the Genomics England (GEL) 100,000 Genomes Project rare disease dataset as well as deciphering developmental disorders study for cases solved with either one of the 38 known Joubert syndrome genes (Supplementary Table 3) or pathogenic variants in LAMA1.