|
1
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0000221)
|
Furrowed tongue |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0000512)
|
Abnormal electroretinogram |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0010628)
|
Facial palsy |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
10
|
(HPO:0007650)
|
Progressive ophthalmoplegia |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|