peroxisome biogenesis disorder 1B

A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.

Signs and symptoms

• Global developmental delay
• Epicanthus
• Hyperoxaluria
• Delayed speech and language development
• Wide nasal bridge
• Seizure
• Hepatic fibrosis
• Cirrhosis
• Hepatomegaly
• Generalized hypotonia