|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
8
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0002506)
|
Diffuse cerebral atrophy |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
12
|
(OMIM)
|
Poor visual fixation |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Lack of visual tracking |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Developmental retardation, severe |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Truncal arching |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
17
|
(OMIM)
|
Multifocal spike and wave activity |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Diffuse slowing of background |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Cerebral atrophy, diffuse, severe |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Cerebellar atrophy, diffuse, severe |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Small thalami |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thin brainstem |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Poor myelination |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
26
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|