|
1
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
4
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
5
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0000884)
|
Prominent sternum |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
13
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
14
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
15
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
16
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
17
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
20
|
(HPO:0003796)
|
Irregular iliac crest |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0004590)
|
Hypoplastic sacrum |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0005033)
|
Distal ulnar hypoplasia |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
|
|
17 / 7739
|
|
24
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
|
25
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
26
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
27
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
28
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
29
|
(MedDRA:10060042)
|
Head circumference normal |
|
|
|
|
5 / 7739
|
|
30
|
(OMIM)
|
Restricted joint mobility |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Marked pneumatization of paranasal sinuses |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Pronounced lumbar lordosis |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Small ilia |
|
|
|
|
5 / 7739
|
|
34
|
(OMIM)
|
Narrow joint spaces |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
36
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
37
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|