Term Name: Peroxisome biogenesis disorder 4B
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0081433]   ( DOID:0081433 )

Relationships
is a type of: autosomal dominant disease autosomal recessive disease peroxisomal biogenesis disorder