Symptom Information: Sort according to HPO 

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