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L1CAM mutation showing paucity of white matter and slit-like ventricle remnants

Low (a) and medium (b) power photomicrograph of temporal lobe from a patient with a L1CAM mutation showing a paucity of white matter and slit-like ventricle remnants and fused ependyma. Arrow notes hypoplastic hippocampus. (Contributed by Dr. William Graf.)

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Associated Disorders

  • CRASH syndrome
  • Complex spastic paraplegia
  • MASA syndrome