OnlineIMD
Antley Bixler syndrome
Synonym(s)
Cytochrome P450 oxidoreductase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
POR
/ Cytochrome P450 Oxidoreductase
7q11.23
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Cytochrome P450 oxidoreductase
Disease group(s)
24.2 Disorders of steroid metabolism
Child entries
Disordered steroidogenesis due to POR deficiency