peroxisome biogenesis disorder 3B

A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.

Signs and symptoms

• Hypotonia
• Ataxia
• Abnormal light-adapted flicker electroretinogram
• Nystagmus
• Elevated circulating phytanic acid concentration
• Esodeviation
• Rod-cone dystrophy
• Intellectual disability
• Dysarthria
• Global developmental delay