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Human Disease

RNASET2-deficient cystic leukoencephalopathy

Term ID
DOID:0081007
Synonyms
  • 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
Ontology
Human Disease   ( DOID:0081007 )
Relationships
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Genes Involved
Zebrafish Models