|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
3
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
9
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
10
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
11
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
|
12
|
(HPO:0007731)
|
Chorioretinal dysplasia |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
|
18
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
19
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
20
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
21
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
22
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
23
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
24
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
25
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
26
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
27
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
28
|
(HPO:0001407)
|
Hepatic cysts |
|
|
|
|
9 / 7739
|
|
29
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
30
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
|
31
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0001816)
|
Thin nail |
|
|
|
|
11 / 7739
|
|
33
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
34
|
(HPO:0001837)
|
Broad toe |
|
|
|
|
13 / 7739
|
|
35
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
|
|
|
|
27 / 7739
|
|
36
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
37
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
|
38
|
(HPO:0002217)
|
Slow-growing hair |
|
|
|
|
22 / 7739
|
|
39
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
40
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
|
41
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
42
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
|
43
|
(HPO:0004442)
|
Sagittal craniosynostosis |
|
|
|
|
16 / 7739
|
|
44
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
45
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
46
|
(HPO:0006563)
|
Malformation of the hepatic ductal plate |
|
|
|
|
2 / 7739
|
|
47
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
48
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
49
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
|
50
|
(OMIM)
|
Occipital bossing |
|
|
|
|
2 / 7739
|
|
51
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
|
52
|
(OMIM)
|
Dental fusion |
|
|
|
|
2 / 7739
|
|
53
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
54
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
55
|
(OMIM)
|
Short and broad distal phalanges |
|
|
|
|
2 / 7739
|
|
56
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|