|
1
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
2
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001927)
|
Acanthocytosis |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
8
|
(HPO:0002310)
|
Orofacial dyskinesia |
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0002454)
|
Eye of the tiger anomaly of globus pallidus |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0003563)
|
Hypobetalipoproteinemia |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0007132)
|
Pallidal degeneration |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Iron deposition in pallidal nuclei |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
MRI shows decreased signal intensity in the pallidal nuclei with central hyperintensity ('eye of the tiger' sign) |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Hypoprebetalipoproteinemia |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
17
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|