OnlineIMD
Phosphopantothenoylcysteine synthetase deficiency
Synonym(s)
Autosomal recessive dilated cardiomyopathy
Type
Disease
External link(s)
IEMbase
Gene
PPCS
/ Phosphopantothenoylcysteine Synthetase
1p34.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phosphopantothenoylcysteine synthetase
Disease group(s)
21.5 Disorders of pantothenate and CoA metabolism