|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
3
|
(HPO:0003028)
|
Abnormality of the ankles |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
7
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
8
|
(HPO:0002999)
|
Patellar dislocation |
Frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
9
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
11
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
12
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
15
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
16
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
19
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
|
20
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
22
|
(HPO:0003086)
|
Acromesomelia |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0005096)
|
Distal femoral bowing |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
|
25
|
(HPO:0006011)
|
Cuboidal metacarpal |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0006014)
|
Abnormally shaped carpal bones |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0006110)
|
Shortening of all middle phalanges of the fingers |
|
|
|
|
7 / 7739
|
|
28
|
(HPO:0006144)
|
Shortening of all proximal phalanges of the fingers |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0008890)
|
Severe short-limb dwarfism |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
31
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
32
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
33
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
34
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
35
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
36
|
(OMIM)
|
Very short fibulae |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Short thumbs and fingers |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Nine carpal bones |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Short, cuboidal metacarpals |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Short proximal and medial phalanges |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Ball-shaped toes |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|