|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
11
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
12
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
|
13
|
(HPO:0007341)
|
Diffuse swelling of cerebral white matter |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
15
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
16
|
(OMIM)
|
Diffuse white matter abnormalities on brain MRI |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cavum septi pellucidi |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Cavum Vergae |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Subcortical cysts in frontal and temporal lobes |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Subcortical cysts may occur elsewhere |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|