1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
3
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
4
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
7
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
8
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
9
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
10
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
11
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
13
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
14
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
15
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
16
|
(OMIM)
|
Prenatal growth delay |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Posterior cleft palate |
|
|
|
|
2 / 7739
|
18
|
(OMIM)
|
Reduction of the intervertebral spaces |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Dysplasia of the hip acetabulum |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Shortening and deformity of the limbs |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Limited supination of the elbow |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Dysplasia of the proximal femoral epiphyses |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Subluxation of the radial heads |
|
|
|
|
3 / 7739
|
24
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
25
|
(OMIM)
|
Hitch-hiker appearance of the thumb |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Irregular size of the metacarpal epiphyses |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Supernumerary carpal ossification centers |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Longitudinal splitting of the proximal phalanx of forefinger |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Fusion of the capitate and hamate bones |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Splitting of the first metacarpal in two parts |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Adducted feet |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Lateral deviation of the fifth toe |
|
|
|
|
1 / 7739
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
34
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|