|
1
|
(HPO:0200101)
|
Decreased/absent ankle reflexes |
Very frequent [IBIS]
|
100% (n=30)
|
26194201
|
IBIS
|
4 / 7739
|
|
2
|
(HPO:0003487)
|
Babinski sign |
Very frequent [IBIS]
|
100% (n=30)
|
26194201
|
IBIS
|
179 / 7739
|
|
3
|
(HPO:0010873)
|
Cervical spinal cord atrophy |
Very frequent [IBIS]
|
100% (n=30)
|
26194201
|
IBIS
|
1 / 7739
|
|
4
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
Very frequent [IBIS]
|
97% (n=30)
|
26194201
|
IBIS
|
73 / 7739
|
|
5
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
Very frequent [IBIS]
|
97% (n=30)
|
26194201
|
IBIS
|
24 / 7739
|
|
6
|
(HPO:0002061)
|
Lower limb spasticity |
Very frequent [IBIS]
|
93 % (n=30)
|
26194201
|
IBIS
|
56 / 7739
|
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
Frequent [IBIS]
|
57% (n=30)
|
26194201
|
IBIS
|
197 / 7739
|
|
8
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
47% (n=30)
|
26194201
|
IBIS
|
230 / 7739
|
|
9
|
(HPO:0007371)
|
Corpus callosum atrophy |
Frequent [IBIS]
|
43% (n=30)
|
26194201
|
IBIS
|
14 / 7739
|
|
10
|
(HPO:0001278)
|
Orthostatic hypotension |
Frequent [IBIS]
|
42% (n=12)
|
26194201
|
IBIS
|
24 / 7739
|
|
11
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
26194201
|
IBIS
|
62 / 7739
|
|
12
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
26194201
|
IBIS
|
31 / 7739
|
|
13
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
26194201
|
IBIS
|
206 / 7739
|
|
14
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Occasional [Orphanet]
|
|
9851430
|
IBIS
|
76 / 7739
|
|
15
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [Orphanet]
|
|
23034915
|
IBIS
|
116 / 7739
|
|
16
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
26194201
|
IBIS
|
318 / 7739
|
|
17
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
23034915
|
IBIS
|
859 / 7739
|
|
18
|
(HPO:0003457)
|
EMG abnormality |
Occasional [Orphanet]
|
|
23034915
|
IBIS
|
78 / 7739
|
|
19
|
(HPO:0100639)
|
Erectile abnormalities |
Very frequent [Orphanet]
|
|
26194201
|
IBIS
|
15 / 7739
|
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
25728520
|
IBIS
|
413 / 7739
|
|
21
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
occasional [HPO]
|
|
25728520
|
IBIS
|
327 / 7739
|
|
22
|
(HPO:0001268)
|
Mental deterioration |
|
|
23034915
|
IBIS
|
88 / 7739
|
|
23
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
26194201
|
IBIS
|
26 / 7739
|
|
24
|
(HPO:0000011)
|
Neurogenic bladder |
|
|
26194201
|
IBIS
|
11 / 7739
|
|
25
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
|
|
9851430
|
IBIS
|
15 / 7739
|
|
26
|
(HPO:0002273)
|
Tetraparesis |
|
|
9851430
|
IBIS
|
15 / 7739
|
|
27
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
26194201
|
IBIS
|
96 / 7739
|
|
28
|
(HPO:0003401)
|
Paresthesia |
|
|
23034915
|
IBIS
|
42 / 7739
|
|
29
|
(OMIM)
|
Micturition difficulties |
|
|
9851430
|
IBIS
|
1 / 7739
|
|
30
|
(OMIM)
|
Pyramidal tetraparesis |
|
|
9851430
|
IBIS
|
1 / 7739
|
|
31
|
(OMIM)
|
Polyglucosan bodies (round intracellular inclusions) found in neuronal and astrocytic processes |
|
|
26194201
|
IBIS
|
1 / 7739
|
|
32
|
(OMIM)
|
Decreased or absent glycogen branching enzyme activity |
|
|
26194201
|
IBIS
|
1 / 7739
|
|
33
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
23034915
|
IBIS
|
76 / 7739
|
|
34
|
(HPO:0011037)
|
Decreased urine output |
Very frequent [Orphanet]
|
|
26194201
|
IBIS
|
47 / 7739
|
|
35
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Very frequent [Orphanet]
|
|
11126844
|
IBIS
|
34 / 7739
|
|
36
|
(HPO:0003474)
|
Sensory impairment |
Frequent [Orphanet]
|
|
26194201
|
IBIS
|
54 / 7739
|
|
37
|
(HPO:0007199)
|
Progressive spastic paraparesis |
|
|
26194201
|
IBIS
|
3 / 7739
|
|
38
|
(HPO:0000020)
|
Urinary incontinence |
|
|
26194201
|
IBIS
|
75 / 7739
|
|
39
|
(HPO:0000338)
|
Hypomimic face |
|
|
26194201
|
IBIS
|
8 / 7739
|
|
40
|
(HPO:0002067)
|
Bradykinesia |
|
|
26194201
|
IBIS
|
62 / 7739
|
|
41
|
(HPO:0007305)
|
CNS demyelination |
|
|
23034915
|
IBIS
|
21 / 7739
|
|
42
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
23034915
|
IBIS
|
160 / 7739
|
|
43
|
(HPO:0000012)
|
Urinary urgency |
|
|
25728520
|
IBIS
|
35 / 7739
|