LRP4

LDL receptor related protein 4
OMIM: 604270
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 17, OMIM:616304
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENANI-LENZ SYNDACTYLY SYNDROME 212780
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CENANI-LENZ SYNDACTYLY SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cenani-Lenz syndactyly syndrome, OMIM:212780, CLSS, Cenani syndactyly, Cenani-Lenz syndactyly, Syndactyly type 7, Polydactyly
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Sclerosteosis 2 614305, Cenani-Lenz syndactyly syndrome 212780