|
1
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 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:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
7
|
(OMIM)
|
Apneic spells |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
9
|
(OMIM)
|
Crawling and standing not achieved |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
MRI shows global lack of myelination in the cerebral hemispheres |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased supratentorial volume |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
MR spectroscopy shows decreased N-acetyl aspartate |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Gray matter appears relatively unaffected |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased plasma lactate |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
17
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|