Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
4
 (HPO:0001760) Abnormality of the foot Occasional [Orphanet] 96 / 7739
5
 (HPO:0012086) Abnormal urinary color Frequent [Orphanet] 19 / 7739
6
 (HPO:0000739) Anxiety 67 / 7739
7
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
8
 (HPO:0001265) Hyporeflexia 208 / 7739
9
 (HPO:0001284) Areflexia 198 / 7739
10
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
11
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
12
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
13
 (HPO:0000726) Dementia Occasional [HPO:probinson] 131 / 7739
14
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
15
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
16
 (HPO:0004447) Poikilocytosis Very frequent [Orphanet] 16 / 7739
17
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
18
 (HPO:0002354) Memory impairment Frequent [Orphanet] 63 / 7739
19
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
20
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
21
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
22
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
23
 (HPO:0003010) Prolonged bleeding time Frequent [Orphanet] 88 / 7739
24
 (HPO:0000718) Aggressive behavior 109 / 7739
25
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
26
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
27
 (HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
28
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
29
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
30
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
31
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
32
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
33
 (HPO:0001332) Dystonia Frequent [Orphanet] 197 / 7739
34
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
35
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
36
 (HPO:0000820) Abnormality of the thyroid gland Occasional [Orphanet] 19 / 7739
37
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
38
 (HPO:0000496) Abnormality of eye movement Frequent [Orphanet] 79 / 7739
39
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
40
 (HPO:0001260) Dysarthria 329 / 7739
41
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
42
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
43
 (HPO:0006554) Acute hepatic failure Occasional [Orphanet] 20 / 7739
44
 (HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
45
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
46
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
47
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
48
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
49
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
50
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
51
 (HPO:0000709) Psychosis 61 / 7739
52
 (HPO:0000734) Disinhibition 13 / 7739
53
 (HPO:0000751) Personality changes 33 / 7739
54
 (HPO:0000763) Sensory neuropathy 78 / 7739
55
 (HPO:0001300) Parkinsonism 75 / 7739
56
 (HPO:0001575) Mood changes 7 / 7739
57
 (HPO:0001761) Pes cavus 225 / 7739
58
 (HPO:0001927) Acanthocytosis 11 / 7739
59
 (HPO:0002015) Dysphagia 301 / 7739
60
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
61
 (HPO:0002307) Drooling 43 / 7739
62
 (HPO:0002310) Orofacial dyskinesia 10 / 7739
63
 (HPO:0002340) Caudate atrophy 4 / 7739
64
 (HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
65
 (HPO:0003690) Limb muscle weakness 41 / 7739
66
 (HPO:0007326) Progressive choreoathetosis 2 / 7739
67
 (HPO:0008767) Self-mutilation of tongue and lips due to involuntary movements 1 / 7739
68
 (HPO:0100033) Tics 6 / 7739
69
 (OMIM) Neck flexion, intermittent 1 / 7739
70
 (OMIM) Limb muscular atrophy 1 / 7739
71
 (OMIM) Putamen atrophy 1 / 7739
72
 (OMIM) Normal serum lipoprotein levels 1 / 7739
73
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
74
 (HPO:0030089) Abnormal muscle fiber protein expression Frequent [Orphanet] 64 / 7739
75
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
76
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
77
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
78
 (HPO:0100613) Death in early adulthood Frequent [Orphanet] 10 / 7739
79
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
80
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
81
 (HPO:0003676) Progressive disorder 148 / 7739