|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0000771)
|
Gynecomastia |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
|
4
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
6
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
8
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
9
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
13
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
14
|
(HPO:0002816)
|
Genu recurvatum |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
18
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
19
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
21
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
22
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
23
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
24
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
25
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
26
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
27
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
28
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
29
|
(HPO:0010886)
|
Osteochondritis Dissecans |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
30
|
(HPO:0001061)
|
Acne |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
31
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
32
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
33
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
34
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
35
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
36
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
37
|
(HPO:0005619)
|
Thoracolumbar kyphosis |
|
|
|
|
8 / 7739
|
|
38
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
39
|
(HPO:0008473)
|
Narrow anterio-posterior vertebral body diameter |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
41
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
42
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
43
|
(OMIM)
|
Reduced sagittal diameter and anterior beaking of vertebrae |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Large joint flexion contractures |
|
|
|
|
1 / 7739
|
|
45
|
(MedDRA:10000501)
|
Acne conglobata |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
47
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
48
|
(HPO:0000168)
|
Abnormality of the gingiva |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
49
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
50
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|