|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0009556)
|
Absent tibia |
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0005048)
|
Synostosis of carpal bones |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
7
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
8
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
9
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
10
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|