SHOX

short stature homeobox
OMIM: 312865, 400020
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
LERI-WEILL DYSCHONDROSTEOSIS 127300, LANGER MESOMELIC DYSPLASIA 249700
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
LANGER MESOMELIC DYSPLASIA, LERI-WEILL DYSCHONDROSTEOSIS
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia, 249700, dorsolateral bowed, short radii, bowing of the radius, curved radius, radioulnar shortening, Leri-Weill dyschondrosteosis, 127300
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia 249700, Short stature, idiopathic familial 300582, Leri-Weill dyschondrosteosis 127300