|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0000884)
|
Prominent sternum |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
7
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0002681)
|
Deformed sella turcica |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0002692)
|
Hypoplastic facial bones |
|
|
|
|
5 / 7739
|
|
12
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
14
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
15
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
16
|
(HPO:0003274)
|
Hypoplastic acetabulae |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
18
|
(HPO:0003467)
|
Atlantoaxial instability |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
20
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0008829)
|
Delayed femoral head ossification |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0008835)
|
Multicentric femoral head ossification |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
24
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
25
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|