|
1
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
4
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
5
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
8
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0003890)
|
Prominent deltoid tuberosities |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
|
13
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
14
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
15
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
16
|
(OMIM)
|
Postnatal short stature |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Wide clavicles |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Normal bone age |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Scoliosis, severe |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Narrowed lumbar canal |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Irregular sacro-iliac joints |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Rhizomelic shortening of the long bones, particularly the upper limbs |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Short distal ulnae |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Sloping epiphyses of the radii |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|