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ENLissencephaly 5 (LIS5)
Alias:
Cobblestone Lissencephaly Without Muscular or Ocular Involvement
Lis5
Cobblestone Lissencephaly Without Muscular or Eye Involvement
Lissencephaly Type 2 Without Muscular or Ocular Involvement
Lissencephaly Type 2 Without Muscular or Eye Involvement
Lissencephaly, Type 5
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Lissencephaly 5, also known as cobblestone lissencephaly without muscular or ocular involvement, is related to proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome and walker-warburg syndrome, and has symptoms including seizures An important gene associated with Lissencephaly 5 is LAMB1 (Laminin Subunit Beta 1), and among its related pathways/superpathways are Guidance Cues and Growth Cone Motility and Signaling by Slit. Affiliated tissues include brain and cortex, and related phenotypes are hydrocephalus and optic atrophy
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