Peroxisome biogenesis disorder 4B

Term ID

DOID:0081433

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. https://pubmed.ncbi.nlm.nih.gov/22871920/

References

• MIM:614863

Ontology

Human Disease   ( DOID:0081433 )