Metadata | |
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ID | DOID:0081007 |
Name | 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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
cystic leukoencephalopathy without megalencephaly [EXACT] infantile-onset RNASET2 deficient cystic leukoencephalopathy [EXACT] |
Parent Relationships |
is_a leukodystrophy |