|
1
|
(HPO:0000112)
|
Nephropathy |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
2
|
(HPO:0000790)
|
Hematuria |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
3
|
(HPO:0003067)
|
Madelung deformity |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
7
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0000093)
|
Proteinuria |
Frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
12
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0000123)
|
Nephritis |
|
|
|
|
18 / 7739
|
|
14
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
|
17
|
(HPO:0005773)
|
Short forearm |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008845)
|
Mesomelic short stature |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
|
20
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
21
|
(OMIM)
|
Normal |
|
|
|
|
14 / 7739
|
|
22
|
(OMIM)
|
Limited elbow and wrist motion |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Dorsal dislocation of distal ulna |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Normocephaly |
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
26
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|