|
1
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
6
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0004646)
|
Hypoplasia of the nasal bone |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0007390)
|
Hyperkeratosis with erythema |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
11
|
(HPO:0008855)
|
Moderate postnatal growth retardation |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0010655)
|
Epiphyseal stippling |
|
|
|
|
32 / 7739
|
|
13
|
(MedDRA:10070670)
|
Limb asymmetry |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Koala bear facies |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Flexion contractures of hips and knees |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Moderate growth deficiency |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0011892)
|
Vitamin K deficiency |
|
|
|
|
4 / 7739
|