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RNASET2-deficient cystic leukoencephalopathy
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease leukodystrophy
External Links
- Disease Ontology
- DOID:0081007
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00584 | Ribonuclease T2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| B8XY56 | Ribonuclease T2 |
