|
1
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
2
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
3
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
4
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0003275)
|
Narrow pelvis bone |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0003799)
|
Marked delay in bone age |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
10
|
(HPO:0004231)
|
Carpal bone aplasia |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0008802)
|
Hypoplasia of the femoral head |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0009196)
|
Absent metacarpal epiphyses |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0004097)
|
Deviation of finger |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0009465)
|
Ulnar deviation of finger |
|
|
|
|
48 / 7739
|
|
15
|
(HPO:0010048)
|
Aplasia of metacarpal bones |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
|
17
|
(OMIM)
|
Normal stature |
|
|
|
|
7 / 7739
|
|
18
|
(OMIM)
|
Small joint laxity |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae) |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Long fingers with squared tips |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|