|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
5
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000465)
|
Webbed neck |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0001380)
|
Ligamentous laxity |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
15
|
(HPO:0001847)
|
Long hallux |
|
|
|
|
13 / 7739
|
|
16
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
17
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
18
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
19
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
21
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
22
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
|
|
21 / 7739
|
|
23
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
24
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
25
|
(HPO:0011448)
|
Ankle clonus |
|
|
|
|
31 / 7739
|
|
26
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
27
|
(OMIM)
|
Recessed chin |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
29
|
(HPO:0011265)
|
Cleft earlobe |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
31
|
(OMIM)
|
Corners of mouth downturned |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Inverted nipples, bilaterally |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Gastrointestinal reflux |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Sacral crease |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
36
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
37
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
38
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
39
|
(OMIM)
|
Speech, limited or nonverbal |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
|
41
|
(OMIM)
|
No cancer despite harboring complete deletions of the TP53 gene |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
44
|
(HPO:0001466)
|
Contiguous gene syndrome |
|
|
|
|
8 / 7739
|