OnlineIMD
CTP synthase 1 deficiency
Synonym(s)
Immunodeficiency type 24
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
CTPS1
/ CTP Synthase 1
1p34.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
CTP synthase 1
Disease group(s)
16.1 Disorders of pyrimidine metabolism