|
1
|
(HPO:0000069)
|
Abnormality of the ureter |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
6
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
7
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
10
|
(HPO:0001601)
|
Laryngomalacia |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
11
|
(HPO:0002251)
|
Aganglionic megacolon |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
14
|
(HPO:0002816)
|
Genu recurvatum |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
16
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
17
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
20
|
(HPO:0002571)
|
Achalasia |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
22
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
23
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
24
|
(HPO:0002250)
|
Abnormality of the large intestine |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
26
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
27
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0011849)
|
Abnormal bone ossification |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
30
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|