rhizomelic chondrodysplasia punctate type 4 (DOID:0081243)
Alliance: disease page
Alt IDs: OMIM:616154, ORDO:438178
Definition: 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.