|
1
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
4
|
(HPO:0010285)
|
Oral synechia |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
8
|
(HPO:0010297)
|
Bifid tongue |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
10
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
11
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
12
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
14
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
15
|
(HPO:0000200)
|
Short lingual frenulum |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
17
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
18
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
19
|
(OMIM)
|
Small nasal alae |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Temporal alopecia |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|