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Metadata
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

GARD:13199

MIM:612951

ORDO:85136

Subsets

DO_rare_slim

Synonyms

cystic leukoencephalopathy without megalencephaly [EXACT]

infantile-onset RNASET2 deficient cystic leukoencephalopathy [EXACT]

Parent Relationships

is_a leukodystrophy

is_a autosomal recessive disease

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