|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
11
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
13
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
14
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
15
|
(OMIM)
|
Arrest of psychomotor development after seizure onset |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Status dystonicus |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Quadriplegic dyskinesia |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
MRI shows T2-weighted signals in the basal ganglia |
|
|
|
|
4 / 7739
|