|
1
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
4
|
(HPO:0000488)
|
Retinopathy |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0001332)
|
Dystonia |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0011031)
|
Abnormality of iron homeostasis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
8
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|