Sjogren-Larsson syndrome (DOID:14501)
Alliance: disease page
Synonyms: FALDH deficiency; fatty acid alcohol oxidoreductase deficiency; Sjogren Larsson syndrome; Sjogren-Larsson's syndrome; SLS
Alt IDs: OMIM:270200, MESH:D016111, NCI:C85070, ORDO:816, UMLS_CUI:C0037231
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.