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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Cerebral manifestations include:

  • severe mental retardation
  • severe central hypotonia
  • areflexia
  • seizures
  • feeding difficulties
  • craniofacial dysmorphia - high forehead and flat facies
  • micropolygyria and pachygyria

Hepatic manifestations comprise:

  • hepatomegaly
  • cirrhosis and occasionally liver failure

Renal manifestations are:

  • multiple small renal cysts

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