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Keyword - Pontocerebellar hypoplasia (KW-1021)

Definition

Protein which, if defective, causes pontocerebellar hypoplasia, a heterogeneous group of congenital disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate nuclei, pontine nuclei and inferior olives. Additional defects of other brain and spinal cord structures can be present, resulting in clinical manifestations that vary among cases.

Synonyms

  • PCH
  • Pontocerebellar atrophy

Category

Disease

Graphical

DiseasePontocerebellar hypoplasia
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