|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
3
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
6
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
7
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
9
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
13
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
14
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
|
15
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
16
|
(HPO:0010503)
|
Fibular duplication |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Tibial hypoplasia |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Thickened fibula |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Duplicated fibula |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
21
|
(OMIM)
|
Nonopposable thumb |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
23
|
(OMIM)
|
Depressed nasal tip due to major alar cartilage hypoplasia |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|