infantile Refsum disease (DOID:0050444)
Alliance: disease page
Synonyms: infantile phytanic acid storage disease
Alt IDs: ICD10CM:G60.1, MESH:D052919, NCI:C84789, UMLS_CUI:C0282527
Definition: A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.