|
1
|
(HPO:0004763)
|
Paroxysmal supraventricular tachycardia |
|
|
|
|
10 / 7739
|
|
2
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
3
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0003184)
|
Decreased hip abduction |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0004566)
|
Pear-shaped vertebrae |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0004581)
|
Increased anterior vertebral height |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0005090)
|
Lateral femoral bowing |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0006599)
|
Medial widening of clavicles |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
13
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
14
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
|
15
|
(OMIM)
|
Rhizomelic (upper extremities greater than lower extremities) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Epiphyseal irregularity |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Normal nails |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0002834)
|
Flared femoral metaphysis |
|
|
|
|
6 / 7739
|
|
21
|
(HPO:0003411)
|
Proximal femoral metaphyseal irregularity |
|
|
|
|
7 / 7739
|
|
22
|
(HPO:0003911)
|
Flared humeral metaphysis |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0005043)
|
Proximal humeral metaphyseal irregularity |
|
|
|
|
2 / 7739
|