FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term RNASET2-deficient cystic leukoencephalopathy ID (Ontology) DOID:0081007 (Human Disease)
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.
Also Known As "cystic leukoencephalopathy without megalencephaly" ; "infantile-onset RNASET2 deficient cystic leukoencephalopathy"
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 Genes
 RNASET2-deficient cystic leukoencephalopathy       1
 for disease ribbon | RNASET2-deficient cystic leukoencephalopathy       1
 model of | RNASET2-deficient cystic leukoencephalopathy       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
cerebral degeneration            |
 |__leukodystrophy_______________|
                                 RNASET2-deficient cystic leukoencephalopathy  1 rec.
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Is a autosomal recessive disease
leukodystrophy
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Synonyms
  • "cystic leukoencephalopathy without megalencephaly" EXACT
    "infantile-onset RNASET2 deficient cystic leukoencephalopathy" EXACT
Secondary IDs
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GARD:13199
MIM:612951
ORDO:85136