Conditions / Genetic
peroxisome biogenesis disorder 5A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.
Signs and symptoms
- Pachygyria
- High forehead
- Hypotonia
- Increased circulating very long-chain fatty acid concentration
- Opacification of the corneal stroma
- Seizure
- Optic nerve dysplasia
- Hypertelorism
- Large fontanelles
- Single transverse palmar crease
Also known as: peroxisome biogenesis disorder 5A (Zellweger)