|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
10
|
(HPO:0006943)
|
Diffuse spongiform leukoencephalopathy |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0007341)
|
Diffuse swelling of cerebral white matter |
|
|
|
|
5 / 7739
|