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Sjogren-Larsson syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Uniprot Description An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects.
Mondo Term and Equivalent IDs
MONDO:0010031:  Sjogren-Larsson syndrome
EFO:0007031: 
GARD:0007654: 
MESH:D016111: 
NCIT:C85070: 
Orphanet:816: 
SCTID:111303009: 
UMLS:C0037231: