C85070Level 6
Sjogren-Larsson Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability.
**Synonyms:** - Fatty Aldehyde Dehydrogenase Deficiency
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