Conditions / Genetic
peroxisome biogenesis disorder 13A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36.
Signs and symptoms
- Seizure
- Hypotonia
- Hepatomegaly
- Generalized hypotonia
- Gray matter heterotopia
- Increased circulating very long-chain fatty acid concentration
- Elevated circulating alanine aminotransferase concentration
- Reduced number of intrahepatic bile ducts
- Large fontanelles
- Intrahepatic cholestasis
Also known as: peroxisome biogenesis disorder 13A (Zellweger)