Table 1.

Genes, clinical features, and diagnostic measures described in people with primary ciliary dyskinesia and normal or near-normal ciliary ultrastructure.

Gene	nNO	Motility	Respiratory Symptoms	Laterality Defects	Subfertility
DNAH1 [16,17]	NR	NR	Yes	Yes	Yes
DNAH9 [18,19]	Low or Normal	Hypokinetic or reduced distal bending	Yes	Yes	Yes
DNAH11 [20,21]	Low	Hyperkinetic	Yes	Yes	Yes
DNAH17 [22]	NR	NR	NR	NR	Yes
LRRC56 [23]	Low	Immotile, stiff, or twitching	Yes	Yes	NR
GAS2L2c [13]	Low or normal	Hyperkinetic	Yes	NR	NR
HYDIN [21,24,25]	Low or normal	Immotile, rigid, rotational	Yes	NR	Yes
CFAP221 [26]	Normal	Circular pattern	Yes	NR	NR
SPEF2 [24]	Low	Stiff, rotational pattern	Yes	NR	Yes
STK36 [27]	Normal	Stiff	Yes	NR	Yes
CCDC164 [28,29]	Low	Stiff	Yes	NR	NR
CCDC65 [30,31]	Low	Stiff, hyperkinetic	Yes	NR	NR
GAS8 [21,32,33]	Low or normal	Normal or subtle beat abnormality	Yes	NR	Yes
RSPH1a [21,34]	Low or normal	Reduced bending angle	Yes	NR	Yes
RSPH3 a [21,35]	Low	Reduced bending angle	Yes	NR	Yes
RSPH4A a [21,36,37,38,39]	Low or Normal	Rotational pattern, stiff	Yes	NR	NR
RSPH9 a [11,21,36,40]	Low or Normal	Rotational pattern, stiff	Yes	NR	Yes
DNAJB13 [41]	Low	Reduced amplitude	Yes	NR	Yes
CFAP53 [42]	Normal	Normal	Yes	Yes	NR
NEK10b [43]	Normal	Normal	Yes	NR	NR
OFD1 [44,45]	Low	Normal, immotile, or stiff	Yes	Yes	NR
NME5 d [46]	NR	NR	Yes	NR	NR
RPGR e [47,48]	Normal	Normal or uncoordinated	Yes	NR	NR

Normal nNO is >77 nL/min; NR—Not reported in literature; Footnotes: ^a Absent or defective radial spokes may be an acquired defect; ^b Shortened cilia; ^c Disoriented cilia; ^d Absent central pair; ^e X-linked transmission.