SHOX

short stature homeobox
OMIM: 312865, 400020
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
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, R412
Signed-off version 4.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia, OMIM:249700 (PR), Leri-Weill dyschondrosteosis, OMIM:127300 (PD), Short stature, idiopathic familial, OMIM:300582
R-numbers: R147
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia, OMIM:249700 (PR), Leri-Weill dyschondrosteosis, OMIM:127300 (PD), Short stature, idiopathic familial, OMIM:300582, Dorsolateral bowed, short radii, Bowing and curving of radius, Radioulnar shortening
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia, OMIM:249700 (PR), Leri-Weill dyschondrosteosis, OMIM:127300 (PD), Short stature, idiopathic familial, OMIM:300582, Dorsolateral bowed, short radii, Bowing and curving of radius, Radioulnar shortening
R-numbers: R52
Signed-off version 1.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia, OMIM:249700 (PR), Leri-Weill dyschondrosteosis, OMIM:127300 (PD), Short stature, idiopathic familial, OMIM:300582, Dorsolateral bowed, short radii, Bowing and curving of radius, Radioulnar shortening