1
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
2
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
3
|
(HPO:0000308)
|
Microretrognathia |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
5
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
6
|
(HPO:0003067)
|
Madelung deformity |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
7
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
8
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
9
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
11
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
12
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
13
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
14
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
15
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
16
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
17
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
18
|
(HPO:0003993)
|
Broad ulna |
|
|
|
|
1 / 7739
|
19
|
(HPO:0006381)
|
Rudimentary fibula |
|
|
|
|
4 / 7739
|
20
|
(HPO:0006436)
|
Shortening of the tibia |
|
|
|
|
2 / 7739
|
21
|
(HPO:0008845)
|
Mesomelic short stature |
|
|
|
|
5 / 7739
|
22
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
23
|
(OMIM)
|
short, broad ulna |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Dorsolateral bowed, short radii |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Laterally angulated tibia |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
27
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|