1
|
(HPO:0000078)
|
Abnormality of the genital system |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
4
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
5
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
6
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
7
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
9
|
(HPO:0000588)
|
Optic nerve coloboma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
10
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
11
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
12
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
13
|
(HPO:0001083)
|
Ectopia lentis |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
14
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
15
|
(HPO:0001107)
|
Ocular albinism |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
16
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
17
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
18
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
19
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
20
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
21
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
22
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
23
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
24
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
25
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
26
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
27
|
(HPO:0100692)
|
Increased corneal curvature |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|