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GENATLAS PHENOTYPE
last update : 06-12-2016
Symbol COBM1
Location 7q31.1
Name Cobblestone brain malformation 1
Other name(s) Lissencephaly 5
Corresponding gene LAMB1
Other symbol(s) LIS5
Main clinical features
  • neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain, lissencephaly type 2
  • brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele
  • on MRI, abnormal cortical gyri and sulci, dramatic white-matter signal abnormalities, and brainstem and cerebellar hypoplasia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)
  • defective connection between radial glial cells and the pial surface mediated by LAMB1 leads potentially to this malformation (PMID: 23472759))