SLC18A3

solute carrier family 18 member A3
OMIM: 600336
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, ophthalmopleggia and apnea, Myasthenic syndrome, congenital, 21, presynaptic, 617239