|
1
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
4
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0000384)
|
Preauricular skin tag |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
30% [HPO:probinson]
|
|
|
|
22 / 7739
|
|
8
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
11
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
10% [HPO:probinson]
|
|
|
|
146 / 7739
|
|
12
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
13
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
15
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
17
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
18
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
19
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
22
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
23
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
24
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
25
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
26
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
27
|
(HPO:0000376)
|
Incomplete partition of the cochlea type II |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0000378)
|
Cupped ear |
45% [HPO:probinson]
|
|
|
|
34 / 7739
|
|
29
|
(HPO:0000410)
|
Mixed hearing impairment |
50% [HPO:probinson]
|
|
|
|
22 / 7739
|
|
30
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
31
|
(HPO:0000799)
|
Renal steatosis |
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
33
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
34
|
(HPO:0002060)
|
Abnormality of the cerebrum |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
36
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
37
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
38
|
(HPO:0004458)
|
Dilatated internal auditory canal |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0004467)
|
Preauricular pit |
75% [HPO:probinson]
|
|
|
|
39 / 7739
|
|
40
|
(HPO:0004712)
|
Renal malrotation |
|
|
|
|
6 / 7739
|
|
41
|
(HPO:0004742)
|
Abnormality of the renal collecting system |
|
|
|
|
4 / 7739
|
|
42
|
(HPO:0007678)
|
Lacrimal duct stenosis |
25% [HPO:probinson]
|
|
|
|
8 / 7739
|
|
43
|
(HPO:0007925)
|
Lacrimal duct aplasia |
25% [HPO:probinson]
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0008551)
|
Microtia |
45% [HPO:probinson]
|
|
|
|
98 / 7739
|
|
45
|
(HPO:0008586)
|
Hypoplasia of the cochlea |
|
|
|
|
4 / 7739
|
|
46
|
(HPO:0009795)
|
Branchial fistula |
|
|
|
|
4 / 7739
|
|
47
|
(HPO:0009797)
|
Cholesteatoma |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0009798)
|
Euthyroid goiter |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0011094)
|
Overbite |
|
|
|
|
5 / 7739
|
|
50
|
(HPO:0100274)
|
Gustatory lacrimation |
|
|
|
|
2 / 7739
|