acyl-CoA binding domain containing protein 5 deficiency
Go to external page http://purl.obolibrary.org/obo/MONDO_0100112
A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay. [ https://clinicalgenome.org/affiliation/40049/ http://www.ncbi.nlm.nih.gov/pubmed/27799409 http://www.ncbi.nlm.nih.gov/pubmed/27899449 ]
Synonyms: acyl-CoA binding domain containing protein 5 deficiency ACBD5 deficiency
Term information
rare, inferred_rare, clingen