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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005328
eye disorder
is_a
MONDO:0019701
chondrodysplasia punctata
is_a
MONDO:0100275
fatty acyl-CoA reductase defects
is_a
FAR1 deficiency
exact
PFCRD
related
fatty acyl-CoA reductase 1 deficiency
exact
fatty acyl-CoA reductase 1 disorder
exact
fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency
exact
peroxisomal fatty acyl-CoA reductase 1 disorder
related
rhizomelic chondrodysplasia punctata type 4
exact
severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency
exact
severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
exact
severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder
exact