ALG14

ALG14, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 612866
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, ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227