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Up to: Eye disorder · Chondrodysplasia punctata · Fatty acyl-CoA reductase defects
Fatty acyl-CoA reductase 1 deficiency
A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
This condition has no sub-types.