1
|
(HPO:0001260)
|
Dysarthria |
Very frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
329 / 7739
|
2
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
327 / 7739
|
3
|
(HPO:0002070)
|
Limb ataxia |
Very frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
41 / 7739
|
4
|
(HPO:0002522)
|
Areflexia of lower limbs |
Very frequent [IBIS]
|
|
23859346
|
IBIS
|
16 / 7739
|
5
|
(HPO:0002075)
|
Dysdiadochokinesis |
Very frequent [IBIS]
|
|
23859346
|
IBIS
|
40 / 7739
|
6
|
(HPO:0000639)
|
Nystagmus |
Frequent [IBIS]
|
|
23859346
|
IBIS
|
555 / 7739
|
7
|
(HPO:0001761)
|
Pes cavus |
Frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
225 / 7739
|
8
|
(HPO:0002650)
|
Scoliosis |
Frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
705 / 7739
|
9
|
(HPO:0003115)
|
Abnormal EKG |
Frequent [IBIS]
|
|
23859346
|
IBIS
|
44 / 7739
|
10
|
(HPO:0003487)
|
Babinski sign |
Frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
179 / 7739
|
11
|
(HPO:0007340)
|
Lower limb muscle weakness |
Frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
61 / 7739
|
12
|
(HPO:0010219)
|
Structural foot deformity |
Frequent [IBIS]
|
|
23859346
|
IBIS
|
1 / 7739
|
13
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
|
23859346; 10633128
|
IBIS
|
192 / 7739
|
14
|
(HPO:0007210)
|
Lower limb amyotrophy |
Frequent [IBIS]
|
|
23859346
|
IBIS
|
7 / 7739
|
15
|
(HPO:0009129)
|
Upper limb amyotrophy |
Frequent [IBIS]
|
|
23859346
|
IBIS
|
3 / 7739
|
16
|
(HPO:0006944)
|
Abolished vibration sense |
Frequent [IBIS]
|
|
23859346
|
IBIS
|
2 / 7739
|
17
|
(HPO:0000505)
|
Visual impairment |
rare [HPO]
Occasional [IBIS]
|
|
23859346; 10633128
|
IBIS
|
297 / 7739
|
18
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
34 / 7739
|
19
|
(HPO:0000819)
|
Diabetes mellitus |
Occasional [IBIS]
|
|
23859346; 23859345; 10633128
|
IBIS
|
131 / 7739
|
20
|
(HPO:0001123)
|
Visual field defect |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
30 / 7739
|
21
|
(HPO:0000365)
|
Hearing impairment |
Occasional [IBIS]
|
|
23859346; 10633128
|
IBIS
|
539 / 7739
|
22
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Occasional [IBIS]
|
|
23859346; 10633128
|
IBIS
|
34 / 7739
|
23
|
(HPO:0002015)
|
Dysphagia |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
301 / 7739
|
24
|
(HPO:0000496)
|
Abnormality of eye movement |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
79 / 7739
|
25
|
(HPO:0000508)
|
Ptosis |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
459 / 7739
|
26
|
(HPO:0000543)
|
Optic disc pallor |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
67 / 7739
|
27
|
(HPO:0001670)
|
Asymmetric septal hypertrophy |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
19 / 7739
|
28
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
141 / 7739
|
29
|
(HPO:0001763)
|
Pes planus |
Occasional [IBIS]
|
|
23859346
|
IBIS
|
176 / 7739
|
30
|
(HPO:0000648)
|
Optic atrophy |
|
|
23859346
|
IBIS
|
238 / 7739
|
31
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
23859346
|
IBIS
|
78 / 7739
|
32
|
(HPO:0001635)
|
Congestive heart failure |
|
|
23859346
|
IBIS
|
232 / 7739
|
33
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
23859346
|
IBIS
|
137 / 7739
|
34
|
(HPO:0001251)
|
Ataxia |
|
|
23859346
|
IBIS
|
413 / 7739
|
35
|
(HPO:0002311)
|
Incoordination |
|
|
23859346
|
IBIS
|
84 / 7739
|
36
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
23859346; 10633128
|
IBIS
|
26 / 7739
|
37
|
(HPO:0003116)
|
Abnormal echocardiogram |
|
|
23859346
|
IBIS
|
33 / 7739
|
38
|
(HPO:0003209)
|
Decreased pyruvate carboxylase activity |
|
|
6847147
|
IBIS
|
5 / 7739
|
39
|
(HPO:0003232)
|
Mitochondrial malic enzyme reduced |
|
|
7199631
|
IBIS
|
4 / 7739
|
40
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
|
|
23859346
|
IBIS
|
9 / 7739
|
41
|
(HPO:0007078)
|
Decreased amplitude of sensory action potentials |
|
|
23859346
|
IBIS
|
5 / 7739
|
42
|
(HPO:0010831)
|
Impaired proprioception |
|
|
10633128
|
IBIS
|
7 / 7739
|
43
|
(HPO:0008311)
|
Spinal cord posterior columns myelin loss |
|
|
23859346
|
IBIS
|
2 / 7739
|
44
|
(HPO:0003474)
|
Sensory impairment |
|
|
23859346
|
IBIS
|
54 / 7739
|
45
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
23859346
|
IBIS
|
131 / 7739
|
46
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
23859346
|
IBIS
|
160 / 7739
|
47
|
(HPO:0002503)
|
Spinocerebellar tract degeneration |
|
|
23859346
|
IBIS
|
8 / 7739
|
48
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
23859346
|
IBIS
|
116 / 7739
|
49
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
23859346
|
IBIS
|
197 / 7739
|
50
|
(HPO:0100321)
|
Abnormality of the dentate nucleus |
|
|
23859346
|
IBIS
|
3 / 7739
|
51
|
(HPO:0030286)
|
Atrophic superior cerebellar peduncle |
|
|
23859346
|
IBIS
|
1 / 7739
|
52
|
(HPO:0002312)
|
Clumsiness |
|
|
23859346
|
IBIS
|
28 / 7739
|
53
|
(HPO:0002078)
|
Truncal ataxia |
|
|
23859346
|
IBIS
|
41 / 7739
|
54
|
(HPO:0002403)
|
Positive Romberg sign |
|
|
23859346
|
IBIS
|
11 / 7739
|
55
|
(HPO:0004326)
|
Cachexia |
|
|
23859346
|
IBIS
|
71 / 7739
|
56
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
23859346
|
IBIS
|
206 / 7739
|
57
|
(HPO:0000570)
|
Abnormality of saccadic eye movements |
|
|
23859346
|
IBIS
|
12 / 7739
|
58
|
(HPO:0001350)
|
Slurred speech |
|
|
23859346
|
IBIS
|
16 / 7739
|
59
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
|
|
23859346
|
IBIS
|
22 / 7739
|
60
|
(OMIM)
|
Cold feet |
|
|
23859346
|
IBIS
|
2 / 7739
|
61
|
(HPO:0006089)
|
Palmar hyperhidrosis |
|
|
23859346
|
IBIS
|
5 / 7739
|
62
|
(HPO:0004409)
|
Hyposmia |
|
|
23859346
|
IBIS
|
16 / 7739
|
63
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
23859346
|
IBIS
|
76 / 7739
|
64
|
(HPO:0010872)
|
EKG: T-wave inversion |
|
|
23859346
|
IBIS
|
19 / 7739
|
65
|
(MedDRA:10048815)
|
Sinus rhythm |
|
|
23859346
|
IBIS
|
3 / 7739
|
66
|
(HPO:0011703)
|
Sinus tachycardia |
|
|
23859346
|
IBIS
|
5 / 7739
|
67
|
(HPO:0011675)
|
Arrhythmia |
|
|
23859346
|
IBIS
|
226 / 7739
|
68
|
(HPO:0005110)
|
Atrial fibrillation |
|
|
23859346
|
IBIS
|
71 / 7739
|
69
|
(HPO:0006673)
|
Reduced systolic function |
|
|
23859346
|
IBIS
|
11 / 7739
|
70
|
(MedDRA:10061330)
|
Papillary muscle disorder |
|
|
23859346
|
IBIS
|
1 / 7739
|
71
|
(MedDRA:10052337)
|
Diastolic dysfunction |
|
|
23859346
|
IBIS
|
14 / 7739
|
72
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
|
|
23859346
|
IBIS
|
41 / 7739
|
73
|
(HPO:0000855)
|
Insulin resistance |
|
|
23859346
|
IBIS
|
32 / 7739
|
74
|
(MedDRA:10052341)
|
Impaired insulin secretion |
|
|
23859346
|
IBIS
|
3 / 7739
|
75
|
(HPO:0000833)
|
Glucose intolerance |
|
|
23859346; 23859345
|
IBIS
|
20 / 7739
|
76
|
(HPO:0002808)
|
Kyphosis |
|
|
23859346
|
IBIS
|
289 / 7739
|
77
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
23859346
|
IBIS
|
309 / 7739
|
78
|
(MedDRA:10056997)
|
Impaired fasting glucose |
|
|
23859345
|
IBIS
|
1 / 7739
|
79
|
(HPO:0001993)
|
Ketoacidosis |
|
|
23859345
|
IBIS
|
17 / 7739
|