peroxisome biogenesis disorder 1A

A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.

Signs and symptoms

• Hearing impairment
• Focal clonic seizure
• Focal impaired awareness seizure
• Decreased muscle mass
• Sepsis
• Elevated circulating aspartate aminotransferase concentration
• Poor suck
• Partial agenesis of the corpus callosum
• Low-set ears
• Weak cry

Also known as: peroxisome biogenesis disorder 1A (Zellweger)