|
1
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
6
|
(HPO:0010285)
|
Oral synechia |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000540)
|
Hypermetropia |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
8
|
(HPO:0001048)
|
Cavernous hemangioma |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000191)
|
Accessory oral frenulum |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
12
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
13
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
14
|
(HPO:0001115)
|
Posterior polar cataract |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
17
|
(OMIM)
|
Lobule creases |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Numerous aberrant oral frenula |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Coarse blonde hair |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
21
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|