Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0001332) Dystonia Frequent [Orphanet] 197 / 7739
3
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 10775536 IBIS 206 / 7739
4
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
5
 (HPO:0000738) Hallucinations Frequent [Orphanet] 60 / 7739
6
 (HPO:0001658) Myocardial infarction 30 / 7739
7
 (HPO:0001681) Angina pectoris 22 / 7739
8
 (HPO:0002363) Abnormality of brainstem morphology Frequent [Orphanet] 14 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
11
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
12
 (HPO:0002621) Atherosclerosis Frequent [Orphanet] 33 / 7739
13
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
14
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
15
 (HPO:0000726) Dementia 10775536 IBIS 131 / 7739
16
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
17
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
18
 (HPO:0000518) Cataract Very frequent [Orphanet] 10775536 IBIS 454 / 7739
19
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
20
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
21
 (HPO:0002071) Abnormality of extrapyramidal motor function Frequent [Orphanet] 76 / 7739
22
 (HPO:0007256) Abnormal pyramidal signs Frequent [Orphanet] 10775536 IBIS 116 / 7739
23
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
24
 (HPO:0001250) Seizures Occasional [Orphanet] 10775536 IBIS 1245 / 7739
25
 (HPO:0000991) Xanthomatosis 16 / 7739
26
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
27
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
28
 (HPO:0001249) Intellectual disability 1089 / 7739
29
 (HPO:0000543) Optic disc pallor 11804206 IBIS 67 / 7739
30
 (HPO:0000746) Delusions 21 / 7739
31
 (HPO:0000939) Osteoporosis 129 / 7739
32
 (HPO:0001081) Cholelithiasis 36 / 7739
33
 (HPO:0001114) Xanthelasma 13 / 7739
34
 (HPO:0001251) Ataxia 10775536 IBIS 413 / 7739
35
 (HPO:0001272) Cerebellar atrophy 10775536 IBIS 197 / 7739
36
 (HPO:0002014) Diarrhea 10775536 IBIS 225 / 7739
37
 (HPO:0002059) Cerebral atrophy 10775536 IBIS 171 / 7739
38
 (HPO:0002093) Respiratory insufficiency 410 / 7739
39
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
40
 (HPO:0002518) Abnormality of the periventricular white matter 10775536 IBIS 24 / 7739
41
 (HPO:0003107) Abnormality of cholesterol metabolism 4 / 7739
42
 (HPO:0003482) EMG: axonal abnormality 10775536 IBIS 3 / 7739
43
 (HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
44
 (HPO:0007024) Pseudobulbar paralysis 7 / 7739
45
 (HPO:0010845) EEG with generalized slow activity 10775536 IBIS 2 / 7739
46
 (HPO:0010874) Tendon xanthomatosis 10775536 IBIS 3 / 7739
47
 (HPO:0100291) Abnormality of central somatosensory evoked potentials 10775536 IBIS 1 / 7739
48
 (HPO:0100321) Abnormality of the dentate nucleus 10775536 IBIS 3 / 7739
49
 (HPO:0001118) Juvenile cataract 3 / 7739
50
 (OMIM) MRI of Achilles tendon shows diffuse enlargement of the tendon, multiple hypersignal areas in T(1)- and T(2)-weighted images 1 / 7739
51
 (MedDRA:10017322) Fractures 18 / 7739
52
 (MedDRA:10017076) Fracture 18 / 7739
53
 (OMIM) Spinal cord paresis 1 / 7739
54
 (MedDRA:10061472) Psychiatric symptom 1 / 7739
55
 (OMIM) MRI - diffuse or focal cerebral and cerebellar white matter disease 1 / 7739
56
 (OMIM) Normal to slightly elevated plasma cholesterol 1 / 7739
57
 (OMIM) Elevated plasma cholestanol 1 / 7739
58
 (OMIM) Elevated urinary 7 alpha-hydroxylated bile alcohols 1 / 7739
59
 (OMIM) Sterol 27-hydroxylase deficiency 1 / 7739
60
 (HPO:0001677) Coronary artery disease Frequent [Orphanet] 58 / 7739
61
 (HPO:0001367) Abnormal joint morphology Occasional [Orphanet] 53 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
64
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
65
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
66
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739