Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
2
 (HPO:0000618) Blindness Occasional [Orphanet] 124 / 7739
3
 (HPO:0000646) Amblyopia Occasional [Orphanet] 42 / 7739
4
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
5
 (HPO:0002028) Chronic diarrhea Very frequent [Orphanet] 51 / 7739
6
 (HPO:0002570) Steatorrhea Very frequent [Orphanet] 31 / 7739
7
 (HPO:0000544) External ophthalmoplegia Frequent [Orphanet] typical [HPO] 40 / 7739
8
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 71 / 7739
9
 (HPO:0000602) Ophthalmoplegia Frequent [Orphanet] typical [HPO] 56 / 7739
10
 (HPO:0001320) Cerebellar vermis hypoplasia Frequent [Orphanet] typical [HPO] 57 / 7739
11
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
12
 (HPO:0002335) Agenesis of cerebellar vermis Frequent [Orphanet] typical [HPO] 25 / 7739
13
 (HPO:0006817) Aplasia/Hypoplasia of the cerebellar vermis Frequent [Orphanet] typical [HPO] 15 / 7739
14
 (HPO:0007360) Aplasia/Hypoplasia of the cerebellum Frequent [Orphanet] 10 / 7739
15
 (HPO:0000556) Retinal dystrophy Very frequent [Orphanet] 65 / 7739
16
 (HPO:0001135) Chorioretinal dystrophy Very frequent [Orphanet] 18 / 7739
17
 (HPO:0007731) Chorioretinal dysplasia Very frequent [Orphanet] 16 / 7739
18
 (HPO:0007973) Retinal dysplasia Very frequent [Orphanet] 27 / 7739
19
 (HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
20
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
21
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
22
 (HPO:0000608) Macular degeneration Very frequent [Orphanet] 36 / 7739
23
 (HPO:0001104) Macular hypoplasia Very frequent [Orphanet] 9 / 7739
24
 (HPO:0007754) Macular dystrophy Very frequent [Orphanet] 26 / 7739
25
 (HPO:0001678) Atrioventricular block Frequent [Orphanet] typical [HPO] 59 / 7739
26
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
27
 (HPO:0011710) Bundle branch block Frequent [Orphanet] 14 / 7739
28
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] typical [HPO] 990 / 7739
29
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
30
 (HPO:0010547) Muscle flaccidity Frequent [Orphanet] 466 / 7739
31
 (HPO:0001635) Congestive heart failure Frequent [Orphanet] 232 / 7739
32
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
33
 (HPO:0001251) Ataxia Occasional [Orphanet] occasional [HPO] 413 / 7739
34
 (HPO:0002066) Gait ataxia Occasional [Orphanet] occasional [HPO] 327 / 7739
35
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
36
 (HPO:0002311) Incoordination Occasional [Orphanet] 84 / 7739
37
 (HPO:0002321) Vertigo Occasional [Orphanet] 58 / 7739
38
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
39
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
40
 (HPO:0008527) Congenital sensorineural hearing impairment Very frequent [Orphanet] hallmark [HPO] 165 / 7739
41
 (HPO:0008625) Severe sensorineural hearing impairment Very frequent [Orphanet] hallmark [HPO] 150 / 7739
42
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
43
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 131 / 7739
44
 (HPO:0001639) Hypertrophic cardiomyopathy Frequent [Orphanet] 137 / 7739
45
 (HPO:0001644) Dilated cardiomyopathy Frequent [Orphanet] 141 / 7739
46
 (HPO:0002155) Hypertriglyceridemia Frequent [Orphanet] 67 / 7739
47
 (HPO:0003077) Hyperlipidemia Frequent [Orphanet] 37 / 7739
48
 (HPO:0003124) Hypercholesterolemia Frequent [Orphanet] 53 / 7739
49
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
50
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
51
 (HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
52
 (HPO:0000508) Ptosis 459 / 7739
53
 (HPO:0001488) Bilateral ptosis 42 / 7739
54
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
55
 (HPO:0000532) Chorioretinal abnormality Very frequent [Orphanet] 5 / 7739
56
 (HPO:0000546) Retinal degeneration 61 / 7739
57
 (HPO:0001103) Abnormality of the macula Very frequent [Orphanet] 7 / 7739
58
 (HPO:0001146) Pigmentary retinal degeneration 15 / 7739
59
 (HPO:0001250) Seizures 1245 / 7739
60
 (HPO:0001260) Dysarthria 329 / 7739
61
 (HPO:0002317) Unsteady gait 45 / 7739
62
 (HPO:0003074) Hyperglycemia 37 / 7739
63
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
64
 (HPO:0005978) Type II diabetes mellitus 68 / 7739
65
 (HPO:0007981) Concentric narrowing of visual fields 2 / 7739
66
 (HPO:0001751) Vestibular dysfunction 19 / 7739
67
 (OMIM) Macular pattern dystrophy 1 / 7739
68
 (OMIM) Normal visual acuity 1 / 7739
69
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
70
 (HPO:0001638) Cardiomyopathy 192 / 7739