|
1
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000512)
|
Abnormal electroretinogram |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0002084)
|
Encephalocele |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
8
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
10
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
11
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
12
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
13
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0100692)
|
Increased corneal curvature |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
18
|
(HPO:0007875)
|
Congenital blindness |
|
|
|
|
9 / 7739
|