|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
8
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
12
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
17
|
(HPO:0002389)
|
Cavum septum pellucidum |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
19
|
(HPO:0002580)
|
Volvulus |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
21
|
(HPO:0011098)
|
Speech apraxia |
|
|
|
|
9 / 7739
|