|
1
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0001760)
|
Abnormality of the foot |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
|
|
297 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
9
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
13
|
(HPO:0004326)
|
Cachexia |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
14
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
15
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
16
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
18
|
(HPO:0008770)
|
Obsessive-compulsive trait |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
20
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
21
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
|
22
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
23
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
24
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
25
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
26
|
(HPO:0002304)
|
Akinesia |
|
|
|
|
18 / 7739
|
|
27
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
28
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
29
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
30
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
31
|
(HPO:0000273)
|
Facial grimacing |
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
33
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
34
|
(HPO:0000643)
|
Blepharospasm |
|
|
|
|
20 / 7739
|
|
35
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
36
|
(HPO:0000658)
|
Eyelid apraxia |
|
|
|
|
5 / 7739
|
|
37
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
38
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
39
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
40
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
41
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
42
|
(HPO:0001367)
|
Abnormal joint morphology |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
|
43
|
(HPO:0001927)
|
Acanthocytosis |
|
|
|
|
11 / 7739
|
|
44
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
45
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
46
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
|
47
|
(HPO:0002310)
|
Orofacial dyskinesia |
|
|
|
|
10 / 7739
|
|
48
|
(HPO:0002454)
|
Eye of the tiger anomaly of globus pallidus |
|
|
|
|
3 / 7739
|
|
49
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
50
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
51
|
(HPO:0007313)
|
Cerebral degeneration |
|
|
|
|
4 / 7739
|
|
52
|
(HPO:0100034)
|
Motor tics |
|
|
|
|
5 / 7739
|
|
53
|
(OMIM)
|
Apraxia of eyelid opening |
|
|
|
|
1 / 7739
|
|
54
|
(MedDRA:10021639)
|
Incontinence |
|
|
|
|
11 / 7739
|
|
55
|
(OMIM)
|
Myopathic changes on pathology |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
57
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
58
|
(OMIM)
|
Walking on toes |
|
|
|
|
1 / 7739
|
|
59
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
60
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
61
|
(HPO:0100033)
|
Tics |
|
|
|
|
6 / 7739
|
|
62
|
(OMIM)
|
Difficulty writing |
|
|
|
|
2 / 7739
|
|
63
|
(OMIM)
|
'Stiffness' |
|
|
|
|
5 / 7739
|
|
64
|
(OMIM)
|
Speech abnormalities |
|
|
|
|
3 / 7739
|
|
65
|
(OMIM)
|
Axonal swelling or thickening in the CNS |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Axonal 'spheroid' inclusions in the CNS |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Iron deposits in the globus pallidus, caudate, and substantia nigra |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
MRI shows decreased signal intensity in the pallidal nuclei with central hyperintensity ('eye of the tiger' sign) |
|
|
|
|
2 / 7739
|
|
69
|
(OMIM)
|
Psychiatric abnormalities (more common in patients with atypical disease and slow progression) |
|
|
|
|
3 / 7739
|
|
70
|
(HPO:0003011)
|
Abnormality of the musculature |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
71
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
72
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
73
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
74
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
|
75
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
76
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
77
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|
|
78
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|