LGI4

leucine rich repeat LGI family member 4
OMIM: 608303
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis Multiplex Congenita, Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468, AMCNMY
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTHROGRYPOSIS MULTIPLEX CONGENITA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis Multiplex Congenita, Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468, AMCNMY, Intellectual disability, Global developmental delay