|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
6
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0010852)
|
EEG with photoparoxysmal response |
|
|
|
|
7 / 7739
|
|
8
|
(OMIM)
|
Diffuse white matter hypodensity on CT scan |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Dysmyelination without demyelination on brain biopsy |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Posterior discharges and an unusual photoparoxysmal response on EEG |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Brain stem auditory evoked potentials consistent with white matter disorder |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|