COL13A1

collagen type XIII alpha 1 chain
OMIM: 120350
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 type 19, Myasthenic syndrome, congenital, 19, 616720