|
1
|
(HPO:0001251)
|
Ataxia |
|
|
14506070
|
IBIS
|
413 / 7739
|
|
2
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
3
|
(HPO:0011229)
|
Broad eyebrow |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
5
|
(HPO:0000571)
|
Hypometric saccades |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
7
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
14506070
|
IBIS
|
27 / 7739
|
|
8
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
14506070
|
IBIS
|
54 / 7739
|
|
9
|
(HPO:0000764)
|
Peripheral axonal degeneration |
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
11
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
12
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
13
|
(HPO:0001266)
|
Choreoathetosis |
79% [HPO:probinson]
|
|
14506070
|
IBIS
|
57 / 7739
|
|
14
|
(HPO:0001268)
|
Mental deterioration |
Occasional [HPO:probinson]
|
|
|
|
88 / 7739
|
|
15
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
17
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
18
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
19
|
(HPO:0001761)
|
Pes cavus |
|
|
14506070
|
IBIS
|
225 / 7739
|
|
20
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
21
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0002650)
|
Scoliosis |
|
|
14506070
|
IBIS
|
705 / 7739
|
|
23
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
24
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
14506070
|
IBIS
|
40 / 7739
|
|
25
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
14506070
|
IBIS
|
53 / 7739
|
|
26
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
27
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
28
|
(HPO:0100543)
|
Cognitive impairment |
|
|
14506070
|
IBIS
|
230 / 7739
|
|
29
|
(OMIM)
|
Distal muscular atrophy due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Muscle coenzyme Q deficiency |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Cerebellar ataxia, severe |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Mosy patients become wheelchair-bound after 10 years |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Choreoathetosis (in 79%), more frequent at disease onset |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Mental deterioration in a subset of patients |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Dementia in a subset of patients |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Axonal sensory and motor peripheral neuropathy, severe |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Nerve biopsy shows axonal degeneration and axonal sprouting |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
41
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|