Conditions / Genetic
peroxisome biogenesis disorder 2A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.
Signs and symptoms
- Elevated circulating long chain fatty acid concentration
- Epicanthus
- Opacification of the corneal stroma
- Upslanted palpebral fissure
- Aminoaciduria
- Seizure
- Hypotonia
- Turricephaly
- Hepatomegaly
- Pigmentary retinopathy
Also known as: peroxisome biogenesis disorder 2A (Zellweger)