Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term). Disease data Classification Disease Synonyms IRD IRD Mild PBD-ZSD Mild peroxisome biogenesis disorder-Zellweger spectrum disorder ORPHA code 772 OMIM code 617370 ICD10 code G60.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl