|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
5
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
6
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
10
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
12
|
(HPO:0002322)
|
Resting tremor |
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0002362)
|
Shuffling gait |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0002396)
|
Cogwheel rigidity |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
No basal ganglion calcification |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0000726)
|
Dementia |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
18
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
19
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
20
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
21
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0100660)
|
Dyskinesia |
|
|
|
|
19 / 7739
|