GHR

growth hormone receptor
OMIM: 600946
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
PITUITARY DWARFISM II 262500
R-numbers: R159
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laron dwarfism (262500), Increased responsiveness to growth hormone (604271), Growth hormone insensitivity, partial (604271)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Hypercholesterolemia, familial, modification of}, 143890, Growth hormone insensitivity, Short stature, 604271, increased responsiveness to growth hormone 604271, Increased responsiveness to growth hormone, Laron dwarfism, 262500, Proportionate Short Stature/Small for Gestational Age