OBO ID: DOID:0081007
Term Name: RNASET2-deficient cystic leukoencephalopathy Search Ontology:
Synonyms:
  • cystic leukoencephalopathy without megalencephaly
  • infantile-onset RNASET2 deficient cystic leukoencephalopathy
Definition: A leukodystrophy that is characterised 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)
OTHER RNASET2-deficient cystic leukoencephalopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNASET2 Leukoencephalopathy, cystic, without megalencephaly 612951
PHENOTYPE No data available

CITATIONS (2)