|
1
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
2
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
5
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
7
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
9
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0002172)
|
Postural instability |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
12
|
(HPO:0002313)
|
Spastic paraparesis |
rare [HPO:skoehler]
|
|
|
|
33 / 7739
|
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
14
|
(HPO:0007141)
|
Sensorimotor neuropathy |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
15
|
(OMIM)
|
Hypertonia of the limbs |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
High-steppage gait |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Fine motor impairment |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
19
|
(OMIM)
|
Brain MRI shows hyperintensities in the basal ganglia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Lesions in the white matter |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Lesions in the anterior pituitary (less common) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Increased serum manganese |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0008282)
|
Unconjugated hyperbilirubinemia |
|
|
|
|
9 / 7739
|
|
24
|
(OMIM)
|
Increased erythropoietin |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Low ferritin |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Low iron |
|
|
|
|
1 / 7739
|
|
27
|
(MedDRA:10022965)
|
Iron binding capacity total increased |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|