|
1
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
2
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
6
|
(HPO:0000376)
|
Incomplete partition of the cochlea type II |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
8
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
9
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
10
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
11
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0004458)
|
Dilatated internal auditory canal |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
14
|
(HPO:0004712)
|
Renal malrotation |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0004742)
|
Abnormality of the renal collecting system |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
17
|
(HPO:0008586)
|
Hypoplasia of the cochlea |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
19
|
(HPO:0011094)
|
Overbite |
|
|
|
|
5 / 7739
|
|
20
|
(HPO:0100274)
|
Gustatory lacrimation |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Long narrow face |
|
|
|
|
11 / 7739
|
|
22
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
23
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
24
|
(HPO:0008513)
|
Bilateral conductive hearing impairment |
|
|
|
|
11 / 7739
|
|
25
|
(HPO:0008591)
|
Congenital conductive hearing impairment |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
|
27
|
(OMIM)
|
Narrow external ear canals (1 patient) |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Unconnected or fused stapes and incus |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Stapes fixation |
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0008554)
|
Cochlear malformation |
|
|
|
|
5 / 7739
|
|
31
|
(OMIM)
|
Lacrimal duct aplasia or stenosis (25% of patients) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Branchial cleft fistulas or cysts, usually bilateral |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
|
|
73 / 7739
|
|
34
|
(OMIM)
|
Renal dysplasia/aplasia |
|
|
|
|
1 / 7739
|