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 )

Relationships
is a type of: autosomal recessive disease syndrome