|
1
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
|
17683354; 7931427; 26090076
|
IBIS
|
192 / 7739
|
|
2
|
(HPO:0001927)
|
Acanthocytosis |
Frequent [IBIS]
obligate [HPO:skoehler]
|
|
17683354; 11761473; 1998879; 7931427; 26090076
|
IBIS
|
11 / 7739
|
|
3
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Frequent [IBIS]
|
|
17683354; 11761473; 1998879; 7931427; 26090076
|
IBIS
|
214 / 7739
|
|
4
|
(HPO:0010970)
|
Blood group antigen abnormality |
Frequent [IBIS]
|
|
17683354; 11761473; 7931427; 26090076
|
IBIS
|
4 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
Frequent [IBIS]
|
|
17683354; 11761473; 1998879; 7931427; 26090076
|
IBIS
|
198 / 7739
|
|
6
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [IBIS]
|
|
11761473; 1998879; 26090076
|
IBIS
|
129 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Frequent [IBIS]
|
|
1998879; 26090076
|
IBIS
|
1245 / 7739
|
|
8
|
(HPO:0007141)
|
Sensorimotor neuropathy |
Frequent [IBIS]
|
|
26090076
|
IBIS
|
27 / 7739
|
|
9
|
(HPO:0003401)
|
Paresthesia |
Rare [IBIS]
|
|
11761473
|
IBIS
|
42 / 7739
|
|
10
|
(HPO:0007328)
|
Impaired pain sensation |
Rare [IBIS]
|
|
11761473
|
IBIS
|
10 / 7739
|
|
11
|
(HPO:0010829)
|
Impaired temperature sensation |
Rare [IBIS]
|
|
11761473
|
IBIS
|
5 / 7739
|
|
12
|
(HPO:0002015)
|
Dysphagia |
Rare [IBIS]
|
|
11761473; 7931427
|
IBIS
|
301 / 7739
|
|
13
|
(HPO:0100247)
|
Recurrent singultus |
Rare [IBIS]
|
|
11761473
|
IBIS
|
7 / 7739
|
|
14
|
(HPO:0002063)
|
Rigidity |
Rare [IBIS]
|
|
11761473
|
IBIS
|
92 / 7739
|
|
15
|
(HPO:0005346)
|
Abnormal facial expression |
Rare [IBIS]
|
|
11761473
|
IBIS
|
2 / 7739
|
|
16
|
(HPO:0003781)
|
Excessive salivation |
Rare [IBIS]
|
|
11761473
|
IBIS
|
15 / 7739
|
|
17
|
(HPO:0001324)
|
Muscle weakness |
|
|
17683354; 7931427
|
IBIS
|
859 / 7739
|
|
18
|
(HPO:0002197)
|
Generalized seizures |
|
|
17683354; 11761473
|
IBIS
|
30 / 7739
|
|
19
|
(HPO:0003198)
|
Myopathy |
|
|
17683354; 26090076
|
IBIS
|
151 / 7739
|
|
20
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
17683354
|
IBIS
|
26 / 7739
|
|
21
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
17683354
|
IBIS
|
17 / 7739
|
|
22
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
17683354
|
IBIS
|
78 / 7739
|
|
23
|
(HPO:0004305)
|
Involuntary movements |
|
|
17683354; 7931427
|
IBIS
|
50 / 7739
|
|
24
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
17683354; 7931427
|
IBIS
|
141 / 7739
|
|
25
|
(HPO:0002072)
|
Chorea |
|
|
17683354; 11761473; 1998879; 7931427; 26090076
|
IBIS
|
53 / 7739
|
|
26
|
(HPO:0000711)
|
Restlessness |
|
|
17683354
|
IBIS
|
18 / 7739
|
|
27
|
(HPO:0001260)
|
Dysarthria |
|
|
17683354; 11761473; 1998879; 7931427
|
IBIS
|
329 / 7739
|
|
28
|
(HPO:0001268)
|
Mental deterioration |
|
|
17683354
|
IBIS
|
88 / 7739
|
|
29
|
(HPO:0002354)
|
Memory impairment |
|
|
17683354
|
IBIS
|
63 / 7739
|
|
30
|
(HPO:0000726)
|
Dementia |
|
|
17683354; 1998879
|
IBIS
|
131 / 7739
|
|
31
|
(HPO:0012075)
|
Personality disorder |
|
|
17683354
|
IBIS
|
4 / 7739
|
|
32
|
(HPO:0000739)
|
Anxiety |
|
|
17683354; 11761473; 7931427
|
IBIS
|
67 / 7739
|
|
33
|
(HPO:0000716)
|
Depression |
|
|
17683354; 11761473; 7931427
|
IBIS
|
99 / 7739
|
|
34
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
17683354
|
IBIS
|
35 / 7739
|
|
35
|
(HPO:0007302)
|
Bipolar affective disorder |
|
|
17683354
|
IBIS
|
15 / 7739
|
|
36
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
17683354; 26090076
|
IBIS
|
27 / 7739
|
|
37
|
(HPO:0005110)
|
Atrial fibrillation |
|
|
17683354; 11761473
|
IBIS
|
71 / 7739
|
|
38
|
(HPO:0004755)
|
Supraventricular tachycardia |
|
|
17683354
|
IBIS
|
20 / 7739
|
|
39
|
(HPO:0009055)
|
Generalized limb muscle atrophy |
|
|
17683354
|
IBIS
|
4 / 7739
|
|
40
|
(HPO:0002310)
|
Orofacial dyskinesia |
|
|
17683354; 11761473; 1998879
|
IBIS
|
10 / 7739
|
|
41
|
(HPO:0010994)
|
Abnormality of the striatum |
|
|
17683354; 26090076
|
IBIS
|
2 / 7739
|
|
42
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
17683354; 26090076
|
IBIS
|
37 / 7739
|
|
43
|
(HPO:0100707)
|
Abnormality of the astrocytes |
|
|
17683354
|
IBIS
|
1 / 7739
|
|
44
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
17683354; 11761473
|
IBIS
|
26 / 7739
|
|
45
|
(HPO:0001635)
|
Congestive heart failure |
|
|
17683354
|
IBIS
|
232 / 7739
|
|
46
|
(HPO:0100543)
|
Cognitive impairment |
|
|
11761473
|
IBIS
|
230 / 7739
|
|
47
|
(HPO:0001903)
|
Anemia |
|
|
11761473
|
IBIS
|
289 / 7739
|
|
48
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
11761473
|
IBIS
|
83 / 7739
|
|
49
|
(HPO:0002240)
|
Hepatomegaly |
|
|
11761473; 26090076
|
IBIS
|
467 / 7739
|
|
50
|
(HPO:0001744)
|
Splenomegaly |
|
|
11761473; 26090076
|
IBIS
|
337 / 7739
|
|
51
|
(HPO:0003750)
|
Increased muscle fatiguability |
|
|
11761473
|
IBIS
|
8 / 7739
|
|
52
|
(HPO:0012433)
|
Abnormal social behavior |
|
|
11761473
|
IBIS
|
7 / 7739
|
|
53
|
(OMIM)
|
Elevated lactate dehydrogenase |
|
|
11761473
|
IBIS
|
4 / 7739
|
|
54
|
(HPO:0045040)
|
Abnormal lactate dehydrogenase activity |
|
|
11761473
|
IBIS
|
1 / 7739
|
|
55
|
(MedDRA:10003481)
|
Aspartate aminotransferase increased |
|
|
11761473
|
IBIS
|
4 / 7739
|
|
56
|
(MedDRA:10001551)
|
Alanine aminotransferase increased |
|
|
11761473
|
IBIS
|
4 / 7739
|
|
57
|
(MedDRA:10017693)
|
Gamma-glutamyltransferase increased |
|
|
11761473
|
IBIS
|
2 / 7739
|
|
58
|
(MedDRA:10019150)
|
Haptoglobin decreased |
|
|
11761473
|
IBIS
|
1 / 7739
|
|
59
|
(HPO:0001332)
|
Dystonia |
|
|
11761473; 26090076
|
IBIS
|
197 / 7739
|
|
60
|
(MedDRA:10050467)
|
Tongue biting |
|
|
11761473
|
IBIS
|
1 / 7739
|
|
61
|
(HPO:0000712)
|
Emotional lability |
|
|
11761473
|
IBIS
|
44 / 7739
|
|
62
|
(HPO:0010535)
|
Sleep apnea |
|
|
11761473
|
IBIS
|
24 / 7739
|
|
63
|
(HPO:0100785)
|
Insomnia |
|
|
11761473; 7931427
|
IBIS
|
18 / 7739
|
|
64
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
11761473
|
IBIS
|
64 / 7739
|
|
65
|
(HPO:0002607)
|
Bowel incontinence |
|
|
11761473
|
IBIS
|
33 / 7739
|
|
66
|
(HPO:0000751)
|
Personality changes |
|
|
1998879
|
IBIS
|
33 / 7739
|
|
67
|
(HPO:0003487)
|
Babinski sign |
|
|
1998879
|
IBIS
|
179 / 7739
|
|
68
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
1998879; 7931427
|
IBIS
|
212 / 7739
|
|
69
|
(HPO:0100033)
|
Tics |
|
|
1998879; 26090076
|
IBIS
|
6 / 7739
|
|
70
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
1998879
|
IBIS
|
171 / 7739
|
|
71
|
(HPO:0002340)
|
Caudate atrophy |
|
|
17683354; 1998879; 7931427; 26090076
|
IBIS
|
4 / 7739
|
|
72
|
(HPO:0001289)
|
Confusion |
|
|
7931427
|
IBIS
|
36 / 7739
|
|
73
|
(HPO:0000738)
|
Hallucinations |
|
|
7931427
|
IBIS
|
60 / 7739
|
|
74
|
(HPO:0002094)
|
Dyspnea |
|
|
7931427
|
IBIS
|
132 / 7739
|
|
75
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
7931427
|
IBIS
|
76 / 7739
|
|
76
|
(HPO:0011713)
|
Left bundle branch block |
|
|
7931427
|
IBIS
|
30 / 7739
|
|
77
|
(HPO:0004322)
|
Short stature |
|
|
7931427
|
IBIS
|
1232 / 7739
|
|
78
|
(HPO:0001276)
|
Hypertonia |
|
|
7931427
|
IBIS
|
317 / 7739
|
|
79
|
(HPO:0100660)
|
Dyskinesia |
|
|
7931427
|
IBIS
|
19 / 7739
|
|
80
|
(HPO:0002600)
|
Hyporeflexia of lower limbs |
|
|
7931427
|
IBIS
|
13 / 7739
|
|
81
|
(HPO:0012391)
|
Hyporeflexia of upper limbs |
|
|
7931427
|
IBIS
|
2 / 7739
|
|
82
|
(HPO:0001288)
|
Gait disturbance |
|
|
7931427
|
IBIS
|
318 / 7739
|
|
83
|
(HPO:0006682)
|
Ventricular extrasystoles |
|
|
7931427
|
IBIS
|
25 / 7739
|
|
84
|
(HPO:0004308)
|
Ventricular arrhythmia |
|
|
7931427
|
IBIS
|
46 / 7739
|
|
85
|
(HPO:0001663)
|
Ventricular fibrillation |
|
|
7931427
|
IBIS
|
35 / 7739
|
|
86
|
(HPO:0001695)
|
Cardiac arrest |
|
|
7931427
|
IBIS
|
87 / 7739
|
|
87
|
(HPO:0001300)
|
Parkinsonism |
|
|
26090076
|
IBIS
|
75 / 7739
|
|
88
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
26090076
|
IBIS
|
206 / 7739
|
|
89
|
(HPO:0011675)
|
Arrhythmia |
|
|
26090076
|
IBIS
|
226 / 7739
|
|
90
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
26090076
|
IBIS
|
78 / 7739
|
|
91
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
26090076
|
IBIS
|
61 / 7739
|
|
92
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
26090076
|
IBIS
|
158 / 7739
|
|
93
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
26090076
|
IBIS
|
73 / 7739
|