LAMA1 and Joubert syndrome: The most likely reason for this is that these patients were recruited into phenotypic groups ‘Congenital malformations caused by ciliopathies’ (specific disease Joubert syndrome) for patient GEL-01 and ‘Motor disorders of the CNS’ (specific disease cerebellar hypoplasia) for patient GEL-02, neither of which contained LAMA1 as a causative gene in the virtual gene panel applied.