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Sjögren-Larsson syndrome

Synonyms
FADH deficiency; FALDH 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

61 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (61 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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