|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
4
|
(HPO:0002823)
|
Abnormality of the femur |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
6
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
9
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
10
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
11
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
14
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
16
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
17
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
18
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
19
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
20
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
21
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
|
22
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
23
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
24
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
|
25
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
26
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
27
|
(HPO:0005900)
|
Fifth metacarpal with ulnar notch |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
29
|
(OMIM)
|
Pseudomuscular build |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Mild facial anomalies |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Well-defined eyebrows |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
33
|
(OMIM)
|
Internal notch of femoral head |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Short, stubby metacarpals |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Short, stubby phalanges |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Second metacarpal notched proximally on radial side |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Growth cartilage disorganized, with islands of cells and abnormal collagen arrangement |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
39
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
40
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
42
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|