|
1
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0001146)
|
Pigmentary retinal degeneration |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
9
|
(HPO:0001956)
|
Truncal obesity |
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0004283)
|
Narrow palm |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
13
|
(HPO:0008848)
|
Moderately short stature |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
15
|
(OMIM)
|
Prominent incisors |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0001786)
|
Narrow foot |
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0000488)
|
Retinopathy |
|
|
|
|
75 / 7739
|
|
19
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|