Conditions / Genetic
peroxisome biogenesis disorder 12A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23.
Signs and symptoms
- Elevated circulating long chain fatty acid concentration
- Epicanthus
- Hepatic failure
- Seizure
- Wide anterior fontanel
- Hypotonia
- Sepsis
- Patent ductus arteriosus
- Elevated circulating hepatic transaminase concentration
- Brisk reflexes
Also known as: peroxisome biogenesis disorder 12A (Zellweger)