Sjogren-Larsson Syndrome (ALDH3A2)

Sjogren-Larsson syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene ALDH3A2. While it has been described in populations around the world, it is most common in individuals of Swedish descent due to the presence of a founder mutation. This syndrome has its onset in infancy or early childhood, and is characterized by scaly, itchy skin, neurological symptoms, developmental delay, intellectual disability, and the inability to control the limbs. Most patients do not learn to walk and many have seizures. With supportive treatments, many patients survive into adulthood. No genotype-phenotype correlation has been reported.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Sjogren-Larsson SyndromeALDH3A21-9 [10] (*4)ARWorldwide< 1 in 50070%0.000600961538461538
Sjogren-Larsson SyndromeALDH3A21-9 [10] (*4)ARSweden1 in 205>95%0.000245037980887037