Peroxisome biogenesis disorder 7B

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 PEX26 gene on chromosome 22q1

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 PEX26 gene on chromosome 22q11.21.

Signs and symptoms

• Decreased liver function
• Sensorineural hearing impairment
• Global developmental delay
• Visual impairment
• Neonatal hypotonia
• Retinal dystrophy