|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
7
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
8
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
9
|
(HPO:0000625)
|
Cleft eyelid |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
|
|
35 / 7739
|
|
11
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
19
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
20
|
(HPO:0002463)
|
Language impairment |
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
22
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
23
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
24
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
25
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
26
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
rare [HPO:skoehler]
|
|
|
|
355 / 7739
|
|
27
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|