|
1
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
2
|
(HPO:0000512)
|
Abnormal electroretinogram |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0000957)
|
Cafe-au-lait spot |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
7
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
10
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
11
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
12
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
13
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
14
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
15
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0030426)
|
Ossifying fibroma |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
20
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
21
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
22
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|