|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
9
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
|
12
|
(OMIM)
|
Lateral rectus palsy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Ocular muscle abnormalities |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Agitated delirium |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Korsakoff's psychosis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Impaired memory |
|
|
|
|
2 / 7739
|
|
17
|
(MedDRA:10042264)
|
Stupor |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|