|
1
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
|
6
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0006385)
|
Short lower limbs |
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
11
|
(OMIM)
|
Disproportionate dwarfism |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Thickened forearm skin |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|