1
|
(HPO:0000252)
|
Microcephaly |
Occasional [HPO:probinson]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000295)
|
Doll-like facies |
Occasional [HPO:probinson]
|
|
|
|
5 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [HPO:probinson]
|
|
|
|
524 / 7739
|
4
|
(HPO:0000639)
|
Nystagmus |
Occasional [HPO:probinson]
|
|
|
|
555 / 7739
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
Occasional [HPO:probinson]
|
|
|
|
197 / 7739
|
6
|
(HPO:0001250)
|
Seizures |
Occasional [HPO:probinson]
|
|
|
|
1245 / 7739
|
7
|
(HPO:0001251)
|
Ataxia |
Occasional [HPO:probinson]
|
|
|
|
413 / 7739
|
8
|
(HPO:0001257)
|
Spasticity |
Occasional [HPO:probinson]
|
|
|
|
251 / 7739
|
9
|
(HPO:0001332)
|
Dystonia |
Occasional [HPO:probinson]
|
|
|
|
197 / 7739
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [HPO:probinson]
|
|
|
|
253 / 7739
|
11
|
(HPO:0002305)
|
Athetosis |
Occasional [HPO:probinson]
|
|
|
|
31 / 7739
|
12
|
(HPO:0002352)
|
Leukoencephalopathy |
Occasional [HPO:probinson]
|
|
|
|
32 / 7739
|
13
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
14
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [HPO:probinson]
|
|
|
|
89 / 7739
|
15
|
(HPO:0007042)
|
Focal white matter lesions |
|
|
|
|
7 / 7739
|
16
|
(HPO:0011344)
|
Severe global developmental delay |
Occasional [HPO:probinson]
|
|
|
|
46 / 7739
|
17
|
(HPO:0011400)
|
Abnormal CNS myelination |
Occasional [HPO:probinson]
|
|
|
|
10 / 7739
|
18
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
19
|
(OMIM)
|
Most patients achieve walking with aid |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Multifocal white matter lesions |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Sparing of central white matter structures |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Anterior temporal lobe subcortical cysts |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Pericystic abnormal myelination |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
No evidence of perinatal infection |
|
|
|
|
1 / 7739
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
26
|
(HPO:0003593)
|
Infantile onset |
Occasional [HPO:probinson]
|
|
|
|
249 / 7739
|
27
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|