|
1
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
2
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
3
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
11
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
12
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
13
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
14
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
15
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
16
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
17
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0000282)
|
Facial edema |
|
|
|
|
5 / 7739
|
|
20
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
21
|
(HPO:0000475)
|
Broad neck |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0000675)
|
Macrodontia of permanent maxillary central incisor |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
24
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
25
|
(HPO:0001824)
|
Weight loss |
|
|
|
|
42 / 7739
|
|
26
|
(HPO:0030051)
|
Tip-toe gait |
|
|
|
|
10 / 7739
|
|
27
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
28
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
29
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
30
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
31
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
32
|
(OMIM)
|
Weight loss in neonatal period |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Broad root of nose |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Broad bridge of nose |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Fine upper lip |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Prominent upper central incisors |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Upper part of thorax narrowed |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Broadly spaced nipples |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Narrowing of the frontal part of the skull |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
20-30 degree extension deficit of knees and elbows |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Seizures, poorly controlled |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Mild spasticity |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Pachygyria, most prominent in the frontal lobes |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|