|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000205)
|
Pursed lips |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
7
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0001083)
|
Ectopia lentis |
rare [HPO:skoehler]
|
|
|
|
45 / 7739
|
|
9
|
(HPO:0001132)
|
Lens subluxation |
|
|
|
|
13 / 7739
|
|
10
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
11
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0002947)
|
Cervical kyphosis |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
15
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0008820)
|
Absent ossification of capital femoral epiphysis |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Lateral curving of inferior scapular angle |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal ribs |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
21
|
(OMIM)
|
No coronal clefts |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Large ossification centers |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|