|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000709)
|
Psychosis |
rare [HPO:skoehler]
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0002189)
|
Excessive daytime sleepiness |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
|
11
|
(HPO:0002476)
|
Primitive reflex |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0002524)
|
Cataplexy |
|
|
|
|
8 / 7739
|
|
13
|
(OMIM)
|
Limb lymphedema (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
REM sleep behavior disorder |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Sensorimotor polyneuropathy |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
17
|
(OMIM)
|
Decreased CSF hypocretin |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
20
|
(HPO:0030050)
|
Narcolepsy |
|
|
|
|
6 / 7739
|