Conditions / Genetic
peroxisome biogenesis disorder 11A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
Signs and symptoms
- Floppy infant
- Decreased liver function
- Anteverted nares
- Seizure
- Wide anterior fontanel
- Global developmental delay
- Multiple renal cysts
- Severe muscular hypotonia
- Depressed nasal bridge
- Failure to thrive
Also known as: peroxisome biogenesis disorder 11A (Zellweger)