|
1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
8
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
11
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
12
|
(HPO:0005640)
|
Abnormal vertebral segmentation and fusion |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0005852)
|
Limited elbow extension and supination |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0008511)
|
Central posterior corneal opacity |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Short 'bull' neck |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Stubby limbs |
|
|
|
|
1 / 7739
|
|
17
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
18
|
(OMIM)
|
Corneal nebulae |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Posterior corneal depression |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|