|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
24387990
|
IBIS
|
322 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000540)
|
Hypermetropia |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
7
|
(HPO:0004565)
|
Severe platyspondyly |
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
9
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
12
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
14
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
18
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
19
|
(HPO:0000642)
|
Red-green dyschromatopsia |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
20
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
21
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
22
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|
|
23
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
24
|
(HPO:0000887)
|
Cupped ribs |
|
|
|
|
9 / 7739
|
|
25
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
27
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
28
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
|
29
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
30
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
|
31
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
|
|
|
|
20 / 7739
|
|
32
|
(HPO:0008821)
|
Hypoplastic inferior ilia |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
34
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
35
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
36
|
(OMIM)
|
Normal facies |
|
|
|
|
9 / 7739
|
|
37
|
(OMIM)
|
Vision impairment, progressive |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Mild platyspondyly |
|
|
|
|
14 / 7739
|
|
39
|
(OMIM)
|
Flat acetabuli |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Rhizomelic shortening |
|
|
|
|
12 / 7739
|
|
41
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
42
|
(OMIM)
|
Thick proximal and middle phalanges |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
46
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
47
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
48
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|