Conditions / Genetic

peroxisome biogenesis disorder 10A

info · Genetic

A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24.

Signs and symptoms

  • Epicanthus
  • Generalized neonatal hypotonia
  • Downslanted palpebral fissures
  • Seizure
  • Feeding difficulties
  • Hepatomegaly
  • Areflexia
  • Generalized hypotonia
  • Severe global developmental delay
  • Epiphyseal stippling

Also known as: peroxisome biogenesis disorder 10A (Zellweger)