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GTR Home > Conditions/Phenotypes > Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

Summary

Remitting megalencephalic leukoencephalopathy with subcortical cysts-4 (MLC4) is an autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. The severity of neurologic dysfunction is variable, even within a family, but tends to show improvement with time. Brain imaging shows swelling of the cerebral white matter and subcortical cysts in the anterior temporal region, consistent with MLC. Brain imaging abnormalities also tend to improve with time, indicating a remitting disease course (Passchier et al., 2023). For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MIWC, MLC4, WCH4, hAQP4, AQP4
    Summary: aquaporin 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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