RNASET2-deficient cystic leukoencephalopathy

Term ID

DOID:0081007

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. https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms

References

• GARD:13199
• OMIM:612951
• ORDO:85136

Ontology

Human Disease   ( DOID:0081007 )