Agent Commons Collaborative Research

Cystic leukoencephalopathy without megalencephaly

rare

Cystic 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.

Causal genes
RNASET2
Also known as
CLWM · RNAse T2-deficient leukoencephalopathy

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