|
1
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0000718)
|
Aggressive behavior |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000743)
|
Frontal release signs |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
12
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
13
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
14
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
15
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
16
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
17
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
18
|
(OMIM)
|
Retinal nerve atrophy (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
20
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
21
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
22
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
23
|
(OMIM)
|
Iron deposition in the globus pallidus and substantia nigra seen on MRI |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
26
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
27
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|