|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
3
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
4
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0011231)
|
Prominent eyelashes |
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0000540)
|
Hypermetropia |
Very frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
8
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
10
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
11
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
12
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
13
|
(HPO:0007758)
|
Congenital visual impairment |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Severe retinal dystrophy |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Profound photophobia |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0010720)
|
Abnormal hair pattern |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|