OnlineIMD
Peroxin 5 deficiency
Synonym(s)
Peroxisome biogenesis disorder-2
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
PEX5
/ Peroxisomal Biogenesis Factor 5
12p13.31
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Peroxin-5
Disease group(s)
19.3 Peroxisomal biogenesis disorders
Child entries
PEX5 long isoform deficiency