|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
7
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
8
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
9
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0000993)
|
Molluscoid pseudotumors |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0001119)
|
Keratoglobus |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
14
|
(HPO:0001519)
|
Disproportionate tall stature |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
16
|
(HPO:0002297)
|
Red hair |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0003302)
|
Spondylolisthesis |
|
|
|
|
14 / 7739
|
|
19
|
(HPO:0007517)
|
Palmoplantar cutis laxa |
|
|
|
|
9 / 7739
|
|
20
|
(OMIM)
|
Brittle cornea |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0100699)
|
Scarring |
|
|
|
|
9 / 7739
|
|
22
|
(OMIM)
|
Normal lysl hydroxylase activity |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Normal dermal hydroxylysine content |
|
|
|
|
1 / 7739
|