CHRND

cholinergic receptor nicotinic delta subunit
OMIM: 100720
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple pterygium syndrome, lethal type, OMIM:253290
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323, Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Several associated, probably most relevant is lethal multiple pterygium syndrome 253290