|
1
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0012265)
|
Ciliary dyskinesia |
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0012384)
|
Rhinitis |
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0100582)
|
Nasal polyposis |
|
|
|
|
14 / 7739
|
|
8
|
(HPO:0200073)
|
Respiratory insufficiency due to defective ciliary clearance |
|
|
|
|
10 / 7739
|
|
9
|
(OMIM)
|
Rhinitis, recurrent |
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
11
|
(OMIM)
|
Lack of situs inversus |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Transmission electron microscopy (TEM) of patient respiratory cilia shows normal 9+2 axonemal composition |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Rare occurrences of 9+0 or 8+1 cilia |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
High-resolution electron microscopy tomography shows absence of projection C2b at the central pair (CP) apparatus of cilia |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Respiratory cilia and sperm flagella show reduced coordination of beating activity |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Reduced beating amplitudes in cilia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Reduced bending capacity of cilia |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|