Conditions / Genetic
peroxisome biogenesis disorder 4A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1.
Signs and symptoms
- Upslanted palpebral fissure
- Hepatomegaly
- Generalized hypotonia
- Increased circulating very long-chain fatty acid concentration
- Depressed nasal bridge
- Epiphyseal stippling
- Absence of peroxisomes
- Hypertelorism
- Respiratory failure
- Epicanthus inversus
Also known as: peroxisome biogenesis disorder 4A (Zellweger)