Clinical features
Homozygous autosomal recessive mutations in the ELOVL4 gene cause a syndrome of ichthyosis, spastic quadriplegia, and intellectual disability. Autosomal dominant heterozygous mutations have been reported to cause Stargardt Macular Degeneration type 3, which is characterized by decreased, fundus flecks, and decreased visual acuity, and an autosomal dominant form of spinocerebellar ataxia.
Prevalence
The prevalence of ELOVL4-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
ELOVL4-related disorders could be inherited in an autosomal recessive or an autosomal dominant manner.