infantil refsum disease


Engelsk navn: Infantile Refsum disease
Engelske synonym: IRD,Mild PBD-ZSD,Mild peroxisome biogenesis disorder-Zellweger spectrum disorder


Definisjon

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).

Fra Orphanet

ORPHA: 772
Klassifiseringsnivå: Disorder
ICD-10: G60.1

Mer informasjon


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