1
|
(HPO:0000473)
|
Torticollis |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
2
|
(HPO:0000643)
|
Blepharospasm |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
3
|
(HPO:0001332)
|
Dystonia |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
4
|
(HPO:0002356)
|
Writer's cramp |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
5
|
(HPO:0001260)
|
Dysarthria |
Occasional [Orphanet]
|
|
|
|
329 / 7739
|
6
|
(HPO:0001618)
|
Dysphonia |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
7
|
(HPO:0002354)
|
Memory impairment |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
8
|
(HPO:0003281)
|
Increased serum ferritin |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
9
|
(HPO:0000103)
|
Polyuria |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
10
|
(HPO:0100515)
|
Pollakisuria |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
11
|
(HPO:0100518)
|
Dysuria |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
12
|
(HPO:0100519)
|
Anuria |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
13
|
(HPO:0100520)
|
Oliguria |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
14
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
15
|
(HPO:0001266)
|
Choreoathetosis |
Very frequent [Orphanet]
|
|
|
|
57 / 7739
|
16
|
(HPO:0002072)
|
Chorea |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
17
|
(HPO:0002305)
|
Athetosis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
18
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
19
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
20
|
(HPO:0000716)
|
Depression |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
21
|
(HPO:0000737)
|
Irritability |
Frequent [Orphanet]
|
|
|
|
93 / 7739
|
22
|
(HPO:0000739)
|
Anxiety |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
23
|
(HPO:0000741)
|
Apathy |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
24
|
(HPO:0001337)
|
Tremor |
Very frequent [Orphanet]
|
|
|
|
200 / 7739
|
25
|
(HPO:0001257)
|
Spasticity |
Frequent [Orphanet]
|
|
|
|
251 / 7739
|
26
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
27
|
(HPO:0002063)
|
Rigidity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
28
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
29
|
(HPO:0001251)
|
Ataxia |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
413 / 7739
|
30
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
327 / 7739
|
31
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
32
|
(HPO:0002311)
|
Incoordination |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
33
|
(HPO:0002321)
|
Vertigo |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
34
|
(HPO:0001310)
|
Dysmetria |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
35
|
(HPO:0002067)
|
Bradykinesia |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
36
|
(HPO:0002186)
|
Apraxia |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
37
|
(HPO:0002304)
|
Akinesia |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
38
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
39
|
(HPO:0000726)
|
Dementia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
40
|
(HPO:0001268)
|
Mental deterioration |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
88 / 7739
|
41
|
(HPO:0002361)
|
Psychomotor deterioration |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
26 / 7739
|
42
|
(HPO:0002376)
|
Developmental regression |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
43
|
(HPO:0002300)
|
Mutism |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
44
|
(HPO:0002357)
|
Dysphasia |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
45
|
(HPO:0002381)
|
Aphasia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
46
|
(HPO:0010529)
|
Echolalia |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
47
|
(HPO:0000819)
|
Diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
48
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
49
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
50
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
51
|
(HPO:0002168)
|
Scanning speech |
|
|
|
|
10 / 7739
|
52
|
(HPO:0002396)
|
Cogwheel rigidity |
|
|
|
|
6 / 7739
|
53
|
(HPO:0011031)
|
Abnormality of iron homeostasis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
54
|
(HPO:0012211)
|
Abnormal renal physiology |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
55
|
(OMIM)
|
Anemia, mild |
|
|
|
|
6 / 7739
|
56
|
(OMIM)
|
Iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by CT and MRI |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Decreased or absent serum ceruloplasmin |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Decreased serum iron |
|
|
|
|
3 / 7739
|