Term Name: | Peroxisome biogenesis disorder 4B |
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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 ) |