Peroxisome biogenesis disorder 4B

A peroxisomal 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 PEX6 gene on chromosome 6p21.

A peroxisomal 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 PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR.

Signs and symptoms

• Decreased liver function
• Seizure
• Short nose
• Ataxia
• Hepatomegaly
• Generalized hypotonia
• Nystagmus
• Hypertelorism
• Single transverse palmar crease
• Rod-cone dystrophy

Also known as: SCABD1; spinocerebellar ataxia with blindness and deafness 1