Conditions / Genetic
peroxisome biogenesis disorder 7A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.
Signs and symptoms
- Long philtrum
- Wide anterior fontanel
- Severe muscular hypotonia
- Flat face
- Nystagmus
- Cataract
- High palate
- Posteriorly rotated ears
- Jaundice
- Flat occiput
Also known as: peroxisome biogenesis disorder 7A (Zellweger)