Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). Disease data Classification Disease Synonyms Intermediate PBD-ZSD NALD Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder NALD ORPHA code 44 OMIM code 617370 ICD10 code E71.3 ICD11 code 5A74.Y *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