|
1
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
2
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
3
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
5
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
7
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
8
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
9
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0005338)
|
Sparse lateral eyebrow |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
14
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
15
|
(HPO:0010751)
|
Chin dimple |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
17
|
(HPO:0200040)
|
Epidermoid cyst |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
18
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
20
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
21
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
22
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
23
|
(HPO:0009553)
|
Abnormality of the hairline |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|