Infantile Refsum disease
Synonyms: IRD | Mild PBD-ZSD | Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Infantile Refsum disease?
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Aicardi-Goutieres Syndrome Advocacy Association
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Moonshots for Unicorns
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For a list of clinical trials in this disease area, please click here.