Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation

Common Name(s)

Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation

Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by {2:van der Knaap et al., 2010} and {1:Lopez-Hernandez et al., 2011}). Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A; {613925}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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The terms "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.