|
1
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
common [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
9
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
14
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0002268)
|
Paroxysmal dystonia |
|
|
|
|
11 / 7739
|
|
16
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
17
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
18
|
(HPO:0003470)
|
Paralysis |
|
|
|
|
11 / 7739
|
|
19
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
20
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
21
|
(HPO:0007704)
|
Paroxysmal involuntary eye movements |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0011972)
|
Hypoglycorrhachia |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0011973)
|
Paroxysmal lethargy |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Infantile seizures |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Seizures, generalized tonic/clonic, myoclonic, atonic, or atypical absence, aggravated by fatigue and fasting with frequency ranges from daily to monthly (in some patients) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Myoclonic astatic epilepsy |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
28
|
(OMIM)
|
Confusion, paroxysmal |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Hemiparesis, paroxysmal |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Total body paralysis, paroxysmal |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Myoclonus, paroxysmal |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Low-to-normal CSF lactate |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Reduced erythrocyte glucose/hexose transport |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
rare [HPO:skoehler]
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
37
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|