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Limb disorders v3.3 SHOX Arina Puzriakova Phenotypes for gene: SHOX were changed from Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 to 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
Limb disorders v3.2 SHOX Arina Puzriakova Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Limb disorders v2.65 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Limb disorders v2.0 SHOX Eleanor Williams commented on gene: SHOX
Limb disorders v0.229 SHOX Sarah Leigh Source Expert Review Green was added to SHOX.
Added phenotypes Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 for gene: SHOX
Limb disorders v0.228 SHOX Sarah Leigh gene: SHOX was added
gene: SHOX was added to Limb disorders. Sources: Other
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700; radioulnar shortening; bowing of the radius; Leri-Weill dyschondrosteosis, 127300