1
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
2
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
3
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
4
|
(HPO:0000262)
|
Turricephaly |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
5
|
(HPO:0009700)
|
Finger symphalangism |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
6
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
7
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
8
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
9
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
10
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
11
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
12
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
13
|
(HPO:0003307)
|
Hyperlordosis |
Occasional [Orphanet]
|
|
|
|
122 / 7739
|
14
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
16
|
(HPO:0000194)
|
Open mouth |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
17
|
(HPO:0000322)
|
Short philtrum |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
18
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
19
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
20
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
21
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
22
|
(HPO:0012368)
|
Flat face |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
23
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
24
|
(HPO:0000244)
|
Brachyturricephaly |
|
|
|
|
9 / 7739
|
25
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
26
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
27
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
28
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
29
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
30
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
31
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
32
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
33
|
(HPO:0002308)
|
Arnold-Chiari malformation |
|
|
|
|
42 / 7739
|
34
|
(HPO:0002676)
|
Cloverleaf skull |
Occasional [HPO:probinson]
|
|
|
|
14 / 7739
|
35
|
(HPO:0002780)
|
Bronchomalacia |
|
|
|
|
7 / 7739
|
36
|
(HPO:0003041)
|
Humeroradial synostosis |
|
|
|
|
19 / 7739
|
37
|
(HPO:0003070)
|
Elbow ankylosis |
|
|
|
|
8 / 7739
|
38
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
39
|
(HPO:0003795)
|
Short middle phalanx of toe |
|
|
|
|
4 / 7739
|
40
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
41
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
42
|
(HPO:0005347)
|
Cartilaginous trachea |
|
|
|
|
1 / 7739
|
43
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
44
|
(HPO:0006110)
|
Shortening of all middle phalanges of the fingers |
|
|
|
|
7 / 7739
|
45
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
46
|
(OMIM)
|
Occasional clover-leaf skull |
|
|
|
|
1 / 7739
|
47
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
48
|
(OMIM)
|
Small nose with low nasal bridge |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Choanal atresia or stenosis |
|
|
|
|
3 / 7739
|
50
|
(OMIM)
|
Laryngo-, tracheo-, bronchomalacia |
|
|
|
|
1 / 7739
|
51
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
52
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
53
|
(OMIM)
|
Partial syndactyly of fingers and toes |
|
|
|
|
2 / 7739
|
54
|
(OMIM)
|
Brachymesophalangy of hands and feet |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Mental retardation, occasional |
|
|
|
|
3 / 7739
|
56
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
57
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|