NPR2

natriuretic peptide receptor 2
OMIM: 108961
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Maroteaux type 602875, Short stature with nonspecific skeletal abnormalities 616255, Epiphyseal chondrodysplasia, Miura type 615923