|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
5
|
(OMIM)
|
Developmental regression, severe |
|
|
|
|
1 / 7739
|
|
6
|
(MedDRA:10061296)
|
Motor dysfunction |
|
|
|
|
4 / 7739
|
|
7
|
(OMIM)
|
Disturbed myelination affecting the periventricular and subcortical white matter |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Brain MRS shows reduced choline and inositol peaks in the parieto-occipital white matter |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Decreased CSF methyltetrahydrofolate (MTHF) |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|