OnlineIMD
Choline transporter deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
SLC5A7
/ Solute Carrier Family 5 Member 7
2q12.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Choline transporter
Disease group(s)
1.13 Disorders of methylamine metabolism