|
1
|
(HPO:0000023)
|
Inguinal hernia |
rare [HPO:skoehler]
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
9
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
10
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
11
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
12
|
(HPO:0000601)
|
Hypotelorism |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
13
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
16
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
21
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
22
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|