|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
4
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
5
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
6
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
9
|
(HPO:0002341)
|
Cervical cord compression |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0003308)
|
Cervical subluxation |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
14
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
|
16
|
(OMIM)
|
Severely disproportionate short stature |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Short |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Slanting acetabular roots |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Rhizomelic shortening |
|
|
|
|
12 / 7739
|
|
20
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
21
|
(OMIM)
|
Abnormal columnization of chondrocytes |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Dilated rough endoplasmic reticulum (RER) |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|