|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
4/4 [HPO:probinson]
|
|
16909383
|
IBIS
|
67 / 7739
|
|
3
|
(HPO:0000488)
|
Retinopathy |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
6
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
7
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
8
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
4/4 [HPO:probinson]
|
|
16909383
|
IBIS
|
144 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
16909383
|
IBIS
|
1232 / 7739
|
|
10
|
(HPO:0004327)
|
Abnormality of the vitreous humor |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
12
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
13
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
14
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
15
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
16
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
4/4 [HPO:probinson]
|
|
16909383
|
IBIS
|
106 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
19
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
2/4 [HPO:probinson]
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0005041)
|
Irregular capital femoral epiphysis |
2/4 [HPO:probinson]
|
|
|
|
5 / 7739
|
|
21
|
(HPO:0007964)
|
Degenerative vitreoretinopathy |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|