|
1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0100540)
|
Palpebral edema |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
7
|
(HPO:0000053)
|
Macroorchidism |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
11
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
12
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
|
13
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
14
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
15
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
16
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
17
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
18
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
19
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|