1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
3
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
4
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
5
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
6
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
7
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
8
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
|
|
226 / 7739
|
9
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
10
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
11
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
12
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
13
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
14
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
15
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
16
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
17
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
18
|
(HPO:0001061)
|
Acne |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
20
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
21
|
(HPO:0000188)
|
Short upper lip |
|
|
|
|
8 / 7739
|
22
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
23
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
24
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
25
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
26
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
27
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
28
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
29
|
(HPO:0000699)
|
Diastema |
|
|
|
|
10 / 7739
|
30
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
31
|
(HPO:0001500)
|
Broad finger |
|
|
|
|
9 / 7739
|
32
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
33
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
34
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
35
|
(HPO:0001682)
|
Subaortic stenosis |
|
|
|
|
17 / 7739
|
36
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
37
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
38
|
(HPO:0001837)
|
Broad toe |
|
|
|
|
13 / 7739
|
39
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
40
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
41
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
42
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
43
|
(HPO:0005174)
|
Membranous subvalvular aortic stenosis |
|
|
|
|
1 / 7739
|
44
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
45
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
46
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
47
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
48
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
49
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
50
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
51
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
52
|
(HPO:0000659)
|
Peters anomaly |
|
|
|
|
10 / 7739
|
53
|
(OMIM)
|
Short, broad palate |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Broad, short fingers |
|
|
|
|
4 / 7739
|
55
|
(OMIM)
|
Broad, short toes |
|
|
|
|
3 / 7739
|
56
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Very frequent [Orphanet]
|
|
|
|
57 / 7739
|
57
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
58
|
(HPO:0012437)
|
Abnormal gallbladder morphology |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
59
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
60
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
61
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|