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GENATLAS PHENOTYPE
last update : 21-12-2015
Symbol MLC2B
Location 11q24.2
Name megalencephalic leukoencephalopathy with subcortical cysts 2B
Corresponding gene HEPACAM
Main clinical features
  • 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 and about 40p100 of patients have mental retardation
  • MRI initially showed diffuse swelling of the cerebral white matter and subcortical cysts in the anterior temporal lobe with involvement of the posterior limb of the internal capsule and the external capsule
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)