|
1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
5
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
6
|
(HPO:0000625)
|
Cleft eyelid |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
8
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
14
|
(HPO:0000480)
|
Retinal coloboma |
|
|
|
|
16 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
17
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
18
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
19
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
20
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
21
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
22
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
23
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
24
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
25
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
26
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
27
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
28
|
(HPO:0000679)
|
Taurodontia |
|
|
|
|
27 / 7739
|
|
29
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
30
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
|
31
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
32
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
33
|
(HPO:0001795)
|
Hyperconvex nail |
|
|
|
|
13 / 7739
|
|
34
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
35
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
36
|
(HPO:0008577)
|
Underfolded helix |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Height >90th percentile |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
High, broad forehead |
|
|
|
|
4 / 7739
|
|
39
|
(OMIM)
|
Long smooth philtrum |
|
|
|
|
9 / 7739
|
|
40
|
(OMIM)
|
Simplified helices |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
42
|
(OMIM)
|
Large feet |
|
|
|
|
12 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|