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Sjögren-Larsson syndrome

Synonyms
FADH deficiency; FAO deficiency; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; Ichthyosis, spastic neurologic disorder, and oligophrenia; Sjogren-Larsson Syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from OMIM]

Available tests

66 tests are in the database for this condition.

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Clinical tests (66 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALDH10, FALDH, SLS, ALDH3A2
    Summary: aldehyde dehydrogenase 3 family member A2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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