Patient 1 2 3 4* 5* Clinical details Gender M F F F M Age 23yrs 18yrs 39yrs 5yrs 9yrs Sitis inversus No Yes No Yes Yes ENT symptoms Yes Yes Yes Yes Yes Respiratory distress at birth No No No No No Productive/ wet cough Yes Yes Yes Yes Yes Bronchiectasis Yes Yes Yes No No Recurrent chest infections Yes Yes Yes Yes Yes Results Nasal nitric oxide (ppb) 25 293 3 463 394 CBF (Hz) 12.6 8.5 0 11.5 8.9 Cilia beat pattern Static or stiff, rapid incomplete beat slow Mainly static, some slow dyskinetic  movement Dyskineitic and rapid incomplete beat Static, dyskinetic   and co-ordinated beat %IDA absent at TEM 42% 36% 78% 21% 33% Immunofluorescence to DNALI1 Yes Yes Yes Yes Yes *Patients’s 4 and 5 were siblings

Table 3: Diagnostic test results for patients with consistent loss of IDA at review.