Human genes for Sjogren-Larsson syndrome
Sjogren-Larsson syndrome [DOID:14501]
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.
Synonyms: Sjogren-Larsson syndrome, DOID:14501, SjogrenLarsson syndrome, Sjogren-Larsson disease, Sjogren-Larsson disorder ...
Linkouts: OMIM