|
1
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
4
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
5
|
(HPO:0004458)
|
Dilatated internal auditory canal |
|
|
|
|
4 / 7739
|
|
6
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
7
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
8
|
(HPO:0008554)
|
Cochlear malformation |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0008586)
|
Hypoplasia of the cochlea |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0009795)
|
Branchial fistula |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
12
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
13
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
14
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
15
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
|
16
|
(OMIM)
|
Narrow external ear canals (1 patient) |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Unconnected or fused stapes and incus |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Stapes fixation |
|
|
|
|
6 / 7739
|
|
19
|
(OMIM)
|
Branchial cleft fistulas or cysts, usually bilateral |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|