Peroxisome biogenesis disorder 9B

info · Genetic

A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.

Signs and symptoms

Constriction of peripheral visual field
Nyctalopia
Polyneuropathy
Distal muscle weakness
Total anosmia
Sensorineural hearing impairment
Elevated circulating phytanic acid concentration
Reduced visual acuity
Cardiomyopathy
Rod-cone dystrophy