|
1
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
2
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
3
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
4
|
(HPO:0010285)
|
Oral synechia |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
6
|
(HPO:0100582)
|
Nasal polyposis |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
7
|
(HPO:0000161)
|
Median cleft lip |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0100835)
|
Benign neoplasm of the central nervous system |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0010609)
|
Skin tags |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
14
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
15
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
16
|
(HPO:0006866)
|
Midline central nervous system lipomas |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Median cleft upper lip |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Nasal mucosal polyps |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Facial skin polyps |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Skin tags containing cartilage on forehead |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000366)
|
Abnormality of the nose |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
22
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
23
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
24
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|