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.

Also known as: FAR1 deficiency, fatty acyl-CoA reductase 1 deficiency, fatty acyl-CoA reductase 1 disorder, fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency, rhizomelic chondrodysplasia punctata type 4, severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency, severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency, severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder

1 clinical trial for this condition and its sub-types, 0 tagged with Fatty acyl-CoA reductase 1 deficiency itself.