Conditions / Genetic
peroxisome biogenesis disorder 3A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.
Signs and symptoms
- Wide nasal bridge
- Wide anterior fontanel
- Seizure
- Poor suck
- Hypotonia
- Areflexia
- Increased circulating very long-chain fatty acid concentration
- Flat face
- High forehead
- Polycystic kidney dysplasia
Also known as: peroxisome biogenesis disorder 3A (Zellweger)