|
1
|
(HPO:0002815)
|
Abnormality of the knee |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
2
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
3
|
(HPO:0006443)
|
Patellar aplasia |
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
5
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
10
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
11
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
12
|
(HPO:0003065)
|
Patellar hypoplasia |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0008784)
|
Wide capital femoral epiphyses |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0008801)
|
Hypoplasia of the lesser trochanter |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Flat, wide proximal femoral epiphyses |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Absent/delayed/irregular ischiopubic junction ossification |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Infra-acetabula axe-cut notches |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Elongated femoral necks |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Short fourth and fifth rays |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal nails |
|
|
|
|
15 / 7739
|
|
22
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|