peroxisome biogenesis disorder 2B

A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.

Signs and symptoms

• Epicanthus
• Elevated circulating long chain fatty acid concentration
• Wide nasal bridge
• Anteverted nares
• Seizure
• Polar cataract
• Prominent forehead
• Abnormal facial shape
• High, narrow palate
• High forehead