Cystic leukoencephalopathy without megalencephaly

General Information (adopted from Orphanet):

Synonyms, Signs: CLWM
Number of Symptoms 27
OrphanetNr: 85136
OMIM Id: 612951
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

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

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Olivier et al. (1998) described 3 Turkish children, including 2 sibs, with cystic leukoencephalopathy observed on brain MRI. Neurologic deficits were noted within the first months of life, and included severe intellectual impairment, motor retardation, and spasticity. Brain ...
Molecular genetics OMIM By linkage analysis and candidate gene sequencing in 2 consanguineous Turkish families with cystic leukoencephalopathy without megalencephaly, Henneke et al. (2009) identified 2 different homozygous mutations in the RNASET2 gene (612944.0001 and 612944.0002, respectively) that segregated with the ...