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cystic leukoencephalopathy without megalencephaly (CLWM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cystic leukoencephalopathy without megalencephaly

MONDO:0013058

Also known as:CLWMRNAse T2-deficient leukoencephalopathyleukoencephalopathy, cystic, without megalencephaly

Overview

Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

GeneticsAutosomal recessive · RNASET2 (chr 6)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Delayed speech and language development and Global developmental delay; and very common findings: Spasticity. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Poor speech, Delayed speech and language development, Dystonia

Genetic Landscape

RNASET2 function has not been fully characterized.

Cystic leukoencephalopathy without megalencephaly is associated with mutations in the RNASET2 gene on chromosome 6.

Diagnosis

Genetic testing for RNASET2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cystic leukoencephalopathy without megalencephaly.

2 publications have been identified in PubMed for cystic leukoencephalopathy without megalencephaly. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Planté-Bordeneuve P (2026). [PMID: 40665566](https://pubmed.ncbi.nlm.nih.gov/40665566/). *Dev Med Child Neurol*. [Basic Science / Preclinical]
Miyake K (2025). [PMID: 40037613](https://pubmed.ncbi.nlm.nih.gov/40037613/). *J Biochem*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612951

Orphanet

European rare disease database

Orphanet:85136

GARD

Genetic and Rare Diseases Info Center

GARD:13199

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cystic leukoencephalopathy without megalencephaly

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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