OnlineIMD
Choline acetyltransferase deficiency
Type
Disease
External link(s)
IEMbase
Gene
CHAT
/ Choline Acetyltransferase
10q11.23
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Choline O-acetyltransferase
Disease group(s)
23.5 Disorders of acetycholine neurotransmission