1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
3
|
(HPO:0002000)
|
Short columella |
|
|
|
|
11 / 7739
|
4
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
6
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
7
|
(HPO:0010655)
|
Epiphyseal stippling |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
8
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
9
|
(HPO:0011305)
|
Partial absence of toe |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
10
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
12
|
(HPO:0009933)
|
Narrow naris |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
14
|
(HPO:0011892)
|
Vitamin K deficiency |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
15
|
(HPO:0000689)
|
Dental malocclusion |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
16
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
17
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
18
|
(HPO:0004609)
|
Patchy distortion of vertebrae |
|
|
|
|
1 / 7739
|
19
|
(HPO:0008428)
|
Vertebral clefting |
|
|
|
|
4 / 7739
|
20
|
(HPO:0009748)
|
Large earlobe |
|
|
|
|
27 / 7739
|
21
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
22
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
23
|
(OMIM)
|
Maxillonasal dysplasia |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Acute nasolabial angle |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Perialar flatness |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Convex upper lip |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Midfacial hypoplasia |
|
|
|
|
3 / 7739
|
28
|
(OMIM)
|
Lack of anterior nasal spine |
|
|
|
|
1 / 7739
|
29
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
30
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
31
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|