Conditions / Genetic

peroxisome biogenesis disorder 8A

info · Genetic

A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.

Signs and symptoms

  • Generalized neonatal hypotonia
  • Elevated circulating aspartate aminotransferase concentration
  • Seizure
  • Hepatomegaly
  • Glossoptosis
  • Generalized hypotonia
  • Severe global developmental delay
  • Epiphyseal stippling
  • Ventricular septal defect
  • Cataract

Also known as: peroxisome biogenesis disorder 8A (Zellweger)