Term Name: | Sjogren-Larsson syndrome |
---|---|
Synonyms: | FALDH deficiency, fatty acid alcohol oxidoreductase deficiency, Sjogren Larsson syndrome, Sjogren-Larsson's syndrome, SLS |
Definition: | A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. |
Ontology: | Human Disease [DOID:14501] ( DOID:14501 ) |