|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0002974)
|
Radioulnar synostosis |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
4
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
6
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
9
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
13
|
(HPO:0008368)
|
Tarsal synostosis |
|
|
|
|
21 / 7739
|
|
14
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
16
|
(HPO:0010781)
|
Skin dimples |
|
|
|
|
5 / 7739
|
|
17
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
18
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
19
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
20
|
(HPO:0100729)
|
Large face |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
24
|
(HPO:0001440)
|
Metatarsal synostosis |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
26
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
27
|
(HPO:0003048)
|
Radial head subluxation |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
29
|
(HPO:0008845)
|
Mesomelic short stature |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
31
|
(OMIM)
|
Normal face |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Lower leg mesomelia |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Rhomboidal shape of tibiae and fibulae |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Relative overgrowth of fibula |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Dimples (chin, buttocks) |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
37
|
(HPO:0200040)
|
Epidermoid cyst |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|