|
1
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
|
|
21 / 7739
|
|
2
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
4
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
5
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
7
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0005028)
|
Widened proximal tibial metaphyses |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0005914)
|
Aplasia/Hypoplasia involving the metacarpal bones |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0008368)
|
Tarsal synostosis |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
13
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
16
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0010242)
|
Aplasia of the proximal phalanges of the hand |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
19
|
(OMIM)
|
Absent ovaries |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Brachydactyly, severe |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Small broad feet |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|