1
|
(HPO:0012753)
|
T2 hypointense basal ganglia |
Very frequent [IBIS]
|
100% (n=24)
|
21981780
|
IBIS
|
1 / 7739
|
2
|
(HPO:0001260)
|
Dysarthria |
Very frequent [IBIS]
|
90% (n=21)
|
23269600
|
IBIS
|
329 / 7739
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
Frequent [IBIS]
|
556% (n=18)
|
21981780
|
IBIS
|
197 / 7739
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
Frequent [IBIS]
|
86% (n=21)
|
23269600
|
IBIS
|
122 / 7739
|
5
|
(HPO:0001257)
|
Spasticity |
Frequent [IBIS]
|
78% (n=18)
|
21981780
|
IBIS
|
251 / 7739
|
6
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [IBIS]
|
78% (n=18)
|
21981780
|
IBIS
|
363 / 7739
|
7
|
(HPO:0003487)
|
Babinski sign |
Frequent [IBIS]
|
78% (n=18)
|
21981780
|
IBIS
|
179 / 7739
|
8
|
(HPO:0000648)
|
Optic atrophy |
Frequent [IBIS]
|
74% (n=23)
|
23269600
|
IBIS
|
238 / 7739
|
9
|
(HPO:0001288)
|
Gait disturbance |
Frequent [IBIS]
|
73% (n=23)
|
23269600
|
IBIS
|
318 / 7739
|
10
|
(HPO:0001300)
|
Parkinsonism |
Frequent [IBIS]
|
72% (n=18)
|
21981780
|
IBIS
|
75 / 7739
|
11
|
(HPO:0012048)
|
Oromandibular dystonia |
Frequent [IBIS]
|
72% (n=18)
|
21981780
|
IBIS
|
7 / 7739
|
12
|
(HPO:0007325)
|
Generalized dystonia |
Frequent [IBIS]
|
72% (n=18)
|
21981780
|
IBIS
|
7 / 7739
|
13
|
(HPO:0001332)
|
Dystonia |
Frequent [IBIS]
|
71% (n=21)
|
23269600
|
IBIS
|
197 / 7739
|
14
|
(HPO:0002015)
|
Dysphagia |
Frequent [IBIS]
|
52% (n=21)
|
23269600
|
IBIS
|
301 / 7739
|
15
|
(HPO:0007002)
|
Motor axonal neuropathy |
Frequent [IBIS]
|
44% (n=18)
|
21981780
|
IBIS
|
17 / 7739
|
16
|
(HPO:0000529)
|
Progressive visual loss |
|
|
22508347
|
IBIS
|
54 / 7739
|
17
|
(HPO:0000712)
|
Emotional lability |
|
|
21981780
|
IBIS
|
44 / 7739
|
18
|
(HPO:0000726)
|
Dementia |
|
|
23269600
|
IBIS
|
131 / 7739
|
19
|
(HPO:0001251)
|
Ataxia |
|
|
21981780
|
IBIS
|
413 / 7739
|
20
|
(HPO:0002311)
|
Incoordination |
|
|
21981780
|
IBIS
|
84 / 7739
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
22584950
|
IBIS
|
1089 / 7739
|
22
|
(HPO:0001263)
|
Global developmental delay |
|
|
22584950
|
IBIS
|
853 / 7739
|
23
|
(HPO:0001265)
|
Hyporeflexia |
|
|
22584950
|
IBIS
|
208 / 7739
|
24
|
(HPO:0001284)
|
Areflexia |
|
|
23269600
|
IBIS
|
198 / 7739
|
25
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
23269600
|
IBIS
|
160 / 7739
|
26
|
(HPO:0001337)
|
Tremor |
|
|
21981780
|
IBIS
|
200 / 7739
|
27
|
(HPO:0001761)
|
Pes cavus |
|
|
23521069
|
IBIS
|
225 / 7739
|
28
|
(HPO:0002366)
|
Abnormal lower motor neuron morphology |
|
|
23269600
|
IBIS
|
12 / 7739
|
29
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
23521069
|
IBIS
|
214 / 7739
|
30
|
(HPO:0003691)
|
Scapular winging |
|
|
22584950
|
IBIS
|
51 / 7739
|
31
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
22584950
|
IBIS
|
118 / 7739
|
32
|
(HPO:0100315)
|
Lewy bodies |
|
|
21981780
|
IBIS
|
5 / 7739
|
33
|
(HPO:0100710)
|
Impulsivity |
|
|
21981780
|
IBIS
|
16 / 7739
|
34
|
(OMIM)
|
Atrophy of the small muscles in the hand |
|
|
22584950
|
IBIS
|
1 / 7739
|
35
|
(MedDRA:10057689)
|
Acquired claw toe |
|
|
22584950
|
IBIS
|
4 / 7739
|
36
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
23521069
|
IBIS
|
76 / 7739
|
37
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
22584950
|
IBIS
|
116 / 7739
|
38
|
(OMIM)
|
Upper motor neuron signs, early |
|
|
23269600
|
IBIS
|
1 / 7739
|
39
|
(OMIM)
|
Lower motor neuron signs, later |
|
|
23269600
|
IBIS
|
1 / 7739
|
40
|
(HPO:0001268)
|
Mental deterioration |
|
|
21981780
|
IBIS
|
88 / 7739
|
41
|
(OMIM)
|
Iron accumulation in the globus pallidus and substantia nigra seen on MRI |
|
|
21981780
|
IBIS
|
1 / 7739
|
42
|
(OMIM)
|
Iron-containing deposits in various brain regions |
|
|
21981780
|
IBIS
|
1 / 7739
|
43
|
(OMIM)
|
Axonal spheroids |
|
|
21981780
|
IBIS
|
2 / 7739
|
44
|
(OMIM)
|
Tau-containing inclusions |
|
|
21981780
|
IBIS
|
1 / 7739
|
45
|
(OMIM)
|
Alpha-synuclein-containing inclusions |
|
|
21981780
|
IBIS
|
1 / 7739
|
46
|
(OMIM)
|
Loss of myelin in the pyramidal tracts |
|
|
21981780
|
IBIS
|
1 / 7739
|
47
|
(OMIM)
|
Reduced nerve amplitudes of peroneal nerve |
|
|
22584950
|
IBIS
|
1 / 7739
|
48
|
(MedDRA:10010219)
|
Compulsions |
|
|
21981780
|
IBIS
|
3 / 7739
|
49
|
(HPO:0000716)
|
Depression |
|
|
21981780
|
IBIS
|
99 / 7739
|
50
|
(MedDRA:10070246)
|
Executive dysfunction |
|
|
22584950
|
IBIS
|
6 / 7739
|
51
|
(OMIM)
|
Increased serum creatine kinase, mild |
|
|
23521069
|
IBIS
|
2 / 7739
|
52
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
21981780
|
IBIS
|
35 / 7739
|
53
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
21981780
|
IBIS
|
29 / 7739
|
54
|
(HPO:0012677)
|
Iron accumulation in globus pallidus |
|
|
21981780
|
IBIS
|
1 / 7739
|
55
|
(HPO:0012678)
|
Iron accumulation in substantia nigra |
|
|
21981780
|
IBIS
|
1 / 7739
|
56
|
(HPO:0100314)
|
Cerebral inclusion bodies |
|
|
21981780
|
IBIS
|
2 / 7739
|
57
|
(HPO:0011400)
|
Abnormal CNS myelination |
|
|
21981780
|
IBIS
|
10 / 7739
|
58
|
(HPO:0002067)
|
Bradykinesia |
|
|
23521069
|
IBIS
|
62 / 7739
|
59
|
(HPO:0000338)
|
Hypomimic face |
|
|
23521069
|
IBIS
|
8 / 7739
|
60
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
23521069
|
IBIS
|
197 / 7739
|
61
|
(HPO:0000551)
|
Abnormality of color vision |
|
|
23269600
|
IBIS
|
20 / 7739
|
62
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
23269600
|
IBIS
|
27 / 7739
|
63
|
(HPO:0000571)
|
Hypometric saccades |
|
|
23269600
|
IBIS
|
10 / 7739
|
64
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
23269600
|
IBIS
|
21 / 7739
|
65
|
(HPO:0000020)
|
Urinary incontinence |
|
|
23269600
|
IBIS
|
75 / 7739
|
66
|
(HPO:0002607)
|
Bowel incontinence |
|
|
23269600
|
IBIS
|
33 / 7739
|
67
|
(HPO:0100543)
|
Cognitive impairment |
|
|
23269600
|
IBIS
|
230 / 7739
|
68
|
(HPO:0009130)
|
Hand muscle atrophy |
|
|
22584950
|
IBIS
|
11 / 7739
|
69
|
(HPO:0011727)
|
Peroneal muscle weakness |
|
|
22584950
|
IBIS
|
6 / 7739
|
70
|
(HPO:0001780)
|
Abnormality of toe |
|
|
22584950
|
IBIS
|
5 / 7739
|
71
|
(HPO:0002127)
|
Abnormal upper motor neuron morphology |
|
|
23269600
|
IBIS
|
15 / 7739
|