Inheritance
Biallelic pathogenic variants in the LSS gene (OMIM *600909) cause an autosomal recessive disorder.
Phenotype
To date, 11 individuals have been described as having a multisystem disorder called Alopecia-mental retardation syndrome 4 (OMIM #618840), characterized by alopecia universalis, and psychomotor retardation of varying degrees, frequently associated with early-onset epilepsy and other dermatological features.
Two individuals from unrelated families have been described nonsyndromic hypotrichosis (OMIM #618275).
LSS gene has also been involved in 4 individuals with congenital cataracts (OMIM #616509)
Prevalence
The disorders associated with LSS pathogenic variants are very rare.
LSS