|
1
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
6
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
8
|
(OMIM)
|
Bifid lateral third of clavicles |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Abnormal acromioclavicular joints |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Lateral clavicular defects |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0000889)
|
Abnormality of the clavicle |
|
|
|
|
3 / 7739
|