syndromic intellectual disability eye disorder fatty acyl-CoA reductase 1 deficiency https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/7924 https://www.malacards.org/card/fatty_acyl_coa_reductase_1_deficiency https://www.malacards.org/card/peroxisomal_fatty_acyl_coa_reductase_1_disorder https://www.malacards.org/card/rhizomelic_chondrodysplasia_punctate_type_4 OMIM:616154 severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency peroxisomal fatty acyl-CoA reductase 1 disorder severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency fatty acyl-CoA reductase 1 deficiency DOID:0081243 PFCRD 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. GARD:0013319 UMLS:C4015344 fatty acyl-CoA reductase 1 disorder FAR1 deficiency MONDO:0014510 MEDGEN:863781 Orphanet:438178 severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency rhizomelic chondrodysplasia punctata type 4 chondrodysplasia punctata fatty acyl-CoA reductase defects