OnlineIMD
Acetylcholine receptor subunit epsilon deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
CHRNE
/ Cholinergic Receptor Nicotinic Epsilon Subunit
17p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Cholinergic receptor nicotinic epsilon subunit protein
Disease group(s)
23.5 Disorders of acetycholine neurotransmission