|
1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
3
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
7
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
8
|
(HPO:0002002)
|
Deep philtrum |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0002566)
|
Intestinal malrotation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0010880)
|
Increased nuchal translucency |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
13
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0011265)
|
Cleft earlobe |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
16
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
17
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
18
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
19
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
20
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
21
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|