Conditions / Genetic
peroxisome biogenesis disorder 6A
info · Genetic
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.
Signs and symptoms
- Wide nasal bridge
- Seizure
- Hypotonia
- Renal cyst
- Low-set ears
- Generalized neonatal hypotonia
- Decreased liver function
- Colpocephaly
- Hepatomegaly
- Severe global developmental delay
Also known as: peroxisome biogenesis disorder 6A (Zellweger)