Search Ontology:
Human Disease
RNASET2-deficient cystic leukoencephalopathy
- Term ID
- DOID:0081007
- Synonyms
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- cystic leukoencephalopathy without megalencephaly
- infantile-onset RNASET2 deficient cystic leukoencephalopathy
- Definition
- A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms
- References
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- GARD:13199
- MIM:612951
- ORDO:85136
- Ontology
- Human Disease ( DOID:0081007 )
- is a type of
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Genes Involved
Zebrafish Models