|
1
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
4
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
5
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
8
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
10
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
11
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
12
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
13
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
14
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
15
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
16
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
17
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
18
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
19
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
20
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
21
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
22
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
23
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
24
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
25
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
26
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
27
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
28
|
(HPO:0001627)
|
Abnormal heart morphology |
|
|
|
|
19 / 7739
|
|
29
|
(HPO:0008479)
|
Hypoplastic vertebral bodies |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
31
|
(HPO:0007517)
|
Palmoplantar cutis laxa |
|
|
|
|
9 / 7739
|
|
32
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
33
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
34
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
35
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
36
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
37
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
38
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
39
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
40
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
41
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
42
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
43
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
44
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
45
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
46
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
|
|
15 / 7739
|
|
47
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
48
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
49
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
50
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|