|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000378)
|
Cupped ear |
rare [HPO:skoehler]
|
|
|
|
34 / 7739
|
|
4
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
5
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
8
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
9
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
13
|
(HPO:0000769)
|
Abnormality of the breast |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
15
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
16
|
(HPO:0001212)
|
Prominent fingertip pads |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
|
19
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
20
|
(HPO:0001680)
|
Coarctation of aorta |
rare [HPO:skoehler]
|
|
|
|
57 / 7739
|
|
21
|
(HPO:0005113)
|
Dilatation of the aortic arch |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
|
|
22 / 7739
|
|
23
|
(HPO:0002000)
|
Short columella |
|
|
|
|
11 / 7739
|
|
24
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
25
|
(HPO:0002761)
|
Generalized joint laxity |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
27
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
28
|
(HPO:0005338)
|
Sparse lateral eyebrow |
|
|
|
|
21 / 7739
|
|
29
|
(HPO:0007655)
|
Eversion of lateral third of lower eyelids |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
31
|
(HPO:0011398)
|
Central hypotonia |
|
|
|
|
12 / 7739
|
|
32
|
(OMIM)
|
Less than third centile |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Occipitofrontal circumference less than third centile |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
35
|
(OMIM)
|
Broad and/or depressed tip of nose |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
37
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
38
|
(OMIM)
|
Areolar fullness in infancy |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Joint hyperlaxity |
|
|
|
|
5 / 7739
|
|
40
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
41
|
(OMIM)
|
Long eyelashes Sparse lateral eyebrows |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Developmental delay, mild to severe |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
44
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
45
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
46
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
47
|
(OMIM)
|
Behavioral difficulties |
|
|
|
|
2 / 7739
|
|
48
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
49
|
(HPO:0000695)
|
Natal tooth |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
50
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
51
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
52
|
(HPO:0001642)
|
Pulmonic stenosis |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
53
|
(HPO:0006695)
|
Atrioventricular canal defect |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|