1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
2
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
3
|
(HPO:0000391)
|
Thickened helices |
|
|
|
|
8 / 7739
|
4
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
5
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
6
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
7
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
8
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
9
|
(HPO:0001239)
|
Wrist flexion contracture |
|
|
|
|
13 / 7739
|
10
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
12
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
13
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
14
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
15
|
(HPO:0001718)
|
Mitral stenosis |
|
|
|
|
10 / 7739
|
16
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
17
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
19
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
20
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
|
|
15 / 7739
|
21
|
(HPO:0002777)
|
Tracheal stenosis |
|
|
|
|
35 / 7739
|
22
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
23
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
24
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
25
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
26
|
(HPO:0006161)
|
Short metacarpals with rounded proximal ends |
|
|
|
|
2 / 7739
|
27
|
(HPO:0010446)
|
Tricuspid stenosis |
|
|
|
|
5 / 7739
|
28
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
29
|
(HPO:0100679)
|
Lack of skin elasticity |
|
|
|
|
29 / 7739
|
30
|
(OMIM)
|
Normal upper/lower segment ratio |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
32
|
(MedDRA:10060042)
|
Head circumference normal |
|
|
|
|
5 / 7739
|
33
|
(OMIM)
|
Long smooth philtrum |
|
|
|
|
9 / 7739
|
34
|
(OMIM)
|
'Pleasant, happy-nature' appearance |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Brainstem bronchi stenosis |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Small, irregular capital femoral epiphyses |
|
|
|
|
2 / 7739
|
37
|
(OMIM)
|
Short, plump tubular bones |
|
|
|
|
1 / 7739
|