|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 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:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0000884)
|
Prominent sternum |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0000911)
|
Flat glenoid fossa |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0000920)
|
Enlargement of the costochondral junction |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
13
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002681)
|
Deformed sella turcica |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
18
|
(HPO:0002692)
|
Hypoplastic facial bones |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
20
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
21
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
22
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
24
|
(HPO:0003183)
|
Wide pubic symphysis |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
26
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
|
27
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
28
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
29
|
(HPO:0004997)
|
Multicentric ossification of proximal humeral epiphyses |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0006450)
|
Multicentric ossification of proximal femoral epiphyses |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0008786)
|
Iliac crest serration |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
33
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
34
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
35
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
36
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
37
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
38
|
(OMIM)
|
Adult height 98-127 cm |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Flared acromion |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Hyperpneumatization of paranasal sinuses |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
C1-C2 dislocation |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Wide sacroiliac joint |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Wide pubic ramus |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Ischiopubic synchondrosis |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
46
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|