Term Name: | RNASET2-deficient cystic leukoencephalopathy |
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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. |
Ontology: | Human Disease [DOID:0081007] ( DOID:0081007 ) |