cystic leukoencephalopathy without megalencephaly
Findings
No curated finding names cystic leukoencephalopathy without megalencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0013058), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- SpasticityHPOHP:0001257
- 6 of 7 reported patients
- SeizureHPOHP:0001250
- 5 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 7 reported patients
- DystoniaHPOHP:0001332
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNASET2HGNC:21686
- Definitive · Illumina · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- NDUFA2HGNC:7685
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: cystic leukoencephalopathy without megalencephaly
- Also called
- CLWM