Sjogren-Larsson Syndrome

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Is a:
  • Disease or Syndrome
  • Congenital Abnormality
Definition:
An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis mental retardation; spastic paraplegia; and congenital ichthyosis. It is caused by mutation of gene encoding microsomal fatty aldehyde dehydrogenase leading to defect in fatty alcohol metabolism.
Synonyms:
  • Fatty Aldehyde Dehydrogenase Deficiency Disease
  • Sjogren Larsson Syndrome
Broader Topics:
Narrower Topics:
  • None
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