Table 2. Clinical and diagnostic characteristics of study cohort.

HVMA, high-speed video microscopy analysis; IF, high-resolution immunofluorescence microscopy; n.a., not applicable; nNO, nasal nitric oxide productionrate; ODA, outer dynein arm; RDS, respiratory distress syndrome; resp., respiratory; SI, situs inversus totalis; TEM, transmission electron microscopy.

Affected individual	Gene/ mutation	IF defect (resp. cells)	TEM defect (resp. cells)	HVMA (resp. cells)	nNO (nl/min)	Chronic nasal congestion	Neonatal period	SI	Consanguinity	Chronic otitis media	Reccurent respiratory infections/ wet cough	Impaired fertility
OP-146 II3	DNAAF2: c.1214ˆ1215 insACGATACCTGCGTGGC, p.Gly406Argfs*89 (homozygous)	DNAI1 and DNAI2 reduced, DNALI1 absent	ODA	immotile	n.a.	yes	RDS	no	yes	yes	yes	yes
OP-234 II1	DNAAF2: c.23C>A, p.Ser8* (homozygous)	DNAI1 and DNAI2 reduced, DNALI1 absent	ODA	immotile	7.6	yes	RDS	yes	yes	yes	yes	n.a.
OP-6 II5	DNAAF7: c.47T>G, p.Val16Gly (homozygous)	DNAI1 and DNAI2 reduced, DNALI1 absent	ODA	minimal residual movement	n.a.	yes	no problems reported	no	no	yes	yes	yes
OP-596 II2	DNAAF7: c.47T>G, p.Val16Gly + c.490dupC, p.Gln164Profs*19	DNAI1 and DNAI2 reduced, DNALI1 absent	ODA	immotile	33.2	yes	RDS	yes	no	yes	yes	yes
OP-3399	DNAAF4: c.31 C>T, p.Gln11* (homozygous)	DNAI1, DNAI2, DNALI1 absent	ODA	immotile	12.7	yes	no problems reported	yes	yes	no	yes	yes
OP-1899 II1	DNAAF6: c.355C>T, p.Gln119* (hemizygous, X-linked)	DNAI1, DNAI2, DNALI1 absent	ODA	immotile	38	yes	RDS	yes	no	yes	yes	yes
OP-3141	Deletion in DNAAF6 (hemizygous, X-linked)	DNAI1, DNAI2, DNALI1 absent	ODA	immotile	22.5	yes	no problems reported	no	no	yes	yes	yes
OP-2334	CFAP300: c.361C>T, p.Arg121* (homozygous)	DNAI1, DNAI2, DNALI1 absent	ODA	immotile	29.8	yes	no problems reported	yes	no	yes	yes	yes
OP-516	LRRC6: c.630delG, p.Trp210Cysfs*12 + c.436G>C, p.Asp146His	DNAI1, DNAI2, DNALI1 absent	ODA	immotile	22.6	yes	no problems reported	yes	no	yes	yes	yes