|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
8
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
9
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
10
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
13
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
14
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
15
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
17
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
19
|
(HPO:0007933)
|
Broad lateral eyebrow |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
21
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
22
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
23
|
(HPO:0000391)
|
Thickened helices |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
25
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
26
|
(OMIM)
|
Coarse scalp hair |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
28
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
30
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|