|
1
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
4
|
(HPO:0004288)
|
Pseudoepiphyses of hand bones |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0100569)
|
Abnormal vertebral ossification |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
7
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
12
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
14
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
15
|
(HPO:0008788)
|
Delayed pubic bone ossification |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0009714)
|
Abnormality of the epididymis |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|