|
1
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
3
|
(HPO:0000384)
|
Preauricular skin tag |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
4
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
8
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
12
|
(HPO:0000625)
|
Cleft eyelid |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
13
|
(HPO:0001140)
|
Epibulbar dermoid |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0002006)
|
Facial cleft |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0002084)
|
Encephalocele |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
16
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
19
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
20
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
21
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
22
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
23
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
24
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
25
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
26
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
27
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
28
|
(HPO:0200040)
|
Epidermoid cyst |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
29
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
30
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
31
|
(HPO:0030001)
|
Lagopthalmos |
Frequent [Orphanet]
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
33
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
36
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
37
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
38
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
39
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
40
|
(HPO:0004423)
|
Cranium bifidum occultum |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0005466)
|
Hypoplasia of the frontal bone |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0007541)
|
Frontal cutaneous lipoma |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0007708)
|
Absent inner eyelashes |
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0007835)
|
S-shaped palpebral fissures |
|
|
|
|
3 / 7739
|
|
45
|
(HPO:0009755)
|
Ankyloblepharon |
|
|
|
|
10 / 7739
|
|
46
|
(HPO:0011803)
|
Bifid nose |
|
|
|
|
12 / 7739
|