|
1
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0001662)
|
Bradycardia |
|
|
|
|
41 / 7739
|
|
3
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
5
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
6
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0003739)
|
Myoclonic spasms |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
10
|
(OMIM)
|
Small or absent fontanels |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Depressed frontal bones |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Overlapping cranial sutures |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Rigidity, axial and limb |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Lack of volitional movement |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Seizures, continuous, refractory |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
EEG shows high voltage spikes over the temporal and central regions |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Multifocal seizures |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Background slowing |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Neuronal loss in the striatum and cerebral cortex |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Astrogliosis |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Corticobasal degeneration |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Episodic myoclonic spasms |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
|
25
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
26
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
27
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
28
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
29
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
30
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
31
|
(HPO:0012448)
|
Delayed myelination |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|