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Diseases
LIPID METABOLISM AND TRANSPORT
14 Disorders of lipid metabolism
14.2 Disorders of peroxisomal fatty acid oxidation
D-bifunctional protein deficiency
Perrault syndrome type 1
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
LIPID METABOLISM AND TRANSPORT
14 Disorders of lipid metabolism
14.2 Disorders of peroxisomal fatty acid oxidation
D-bifunctional protein deficiency
Perrault syndrome type 1
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
D-bifunctional protein deficiency
Synonym(s)
Pseudo-Zellweger syndrome
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
HSD17B4
/ HSD17B4
5q23.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Hydroxysteroid 17-beta dehydrogenase 4
Disease group(s)
14.2 Disorders of peroxisomal fatty acid oxidation
Child entries
Perrault syndrome type 1