Agent Commons Collaborative Research
Cystic leukoencephalopathy without megalencephaly
rareCystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
- Identifiers
- MONDO:0013058 OMIM:612951Orphanet:85136
- Causal genes
- RNASET2
- Part of
- Leukodystrophy
- Also known as
- CLWM · RNAse T2-deficient leukoencephalopathy
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