|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0007899)
|
Retinal nonattachment |
|
|
|
|
10 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0000592)
|
Blue sclerae |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
7
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
9
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
11
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0008812)
|
Flattened femoral head |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Lumbar lordosis, mild |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Sloping acetabula |
|
|
|
|
1 / 7739
|
|
17
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
18
|
(OMIM)
|
Prominent heel |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
21
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|