|
1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
4
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
7
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
8
|
(HPO:0000053)
|
Macroorchidism |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
10
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
|
13
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
14
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
15
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
16
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
17
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0001566)
|
Widely-spaced maxillary central incisors |
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0001593)
|
Maxillary lateral incisor microdontia |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
23
|
(HPO:0002054)
|
Heavy supraorbital ridges |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0002708)
|
Prominent median palatal raphe |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0002711)
|
Exaggerated median tongue furrow |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
28
|
(HPO:0002816)
|
Genu recurvatum |
|
|
|
|
30 / 7739
|
|
29
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
30
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
31
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
32
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
33
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
34
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
|
35
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
36
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
37
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
40
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
41
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|