Symptom Information: Sort according to HPO 

1
 (HPO:0001332) Dystonia Occasional [Orphanet] 197 / 7739
2
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
3
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
4
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
5
 (HPO:0001761) Pes cavus Frequent [Orphanet] 225 / 7739
6
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
7
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
12
 (HPO:0000649) Abnormality of visual evoked potentials Occasional [Orphanet] 34 / 7739
13
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
14
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
15
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
16
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
17
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
18
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
19
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
20
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
21
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
22
 (HPO:0001114) Xanthelasma 13 / 7739
23
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
24
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
25
 (HPO:0003124) Hypercholesterolemia 53 / 7739
26
 (HPO:0003141) Hyperbetalipoproteinemia 10 / 7739
27
 (HPO:0010874) Tendon xanthomatosis 3 / 7739
28
 (HPO:0100513) Vitamin E deficiency 1 / 7739
29
 (MedDRA:10057660) Spinocerebellar ataxia 4 / 7739
30
 (OMIM) Proprioception loss 1 / 7739
31
 (OMIM) Undetectable serum vitamin E 1 / 7739
32
 (OMIM) High serum cholesterol, triglyceride and beta-lipoprotein 1 / 7739
33
 (OMIM) Defective liver 'tocopherol binding protein' 1 / 7739
34
 (HPO:0000991) Xanthomatosis 16 / 7739
35
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
36
 (HPO:0000504) Abnormality of vision Frequent [Orphanet] 22 / 7739
37
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
38
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
39
 (HPO:0003474) Sensory impairment Frequent [Orphanet] 54 / 7739
40
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739