COLQ

collagen like tail subunit of asymmetric acetylcholinesterase
OMIM: 603033
PanelMode of inheritanceDetails
2 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 5 603034
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, Recessive, Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency, Myasthenic syndrome, congenital, 5, 603034