|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
5
|
(HPO:0002823)
|
Abnormality of the femur |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0100745)
|
Abnormality of the humeroulnar joint |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0003045)
|
Abnormality of the patella |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
8
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
9
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0003067)
|
Madelung deformity |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0002992)
|
Abnormality of the tibia |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0009811)
|
Abnormality of the elbow |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
17
|
(HPO:0003027)
|
Mesomelia |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
18
|
(HPO:0100777)
|
Exostoses |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
19
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
20
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
21
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
22
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
23
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
24
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0003102)
|
Increased carrying angle |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0006459)
|
Dorsal subluxation of ulna |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
28
|
(OMIM)
|
Adult height 135cm to normal |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Bowing of the radii |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Short, mildly curved tibia |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Limited wrist mobility |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0040064)
|
Abnormality of limbs |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
33
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|