SHOX downstream regulatory region

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red SHOX downstream regulatory region Region in Mendeliome Version 1.4851	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Leri-Weill dyschondrosteosis (MIM#127300) Short stature, idiopathic familial (MIM#300582) Tags regulatory region
Red SHOX downstream regulatory region Region in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.22 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Literature Phenotypes Leri-Weill dyschondrosteosis (MIM#127300) Short stature, idiopathic familial (MIM#300582) Tags regulatory region
Red SHOX downstream regulatory region Region in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.444	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Literature Phenotypes Leri-Weill dyschondrosteosis (MIM#127300) Short stature, idiopathic familial (MIM#300582) Tags regulatory region
Red SHOX downstream regulatory region Region in Growth failure Version 1.107	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Literature Phenotypes Leri-Weill dyschondrosteosis (MIM#127300) Short stature, idiopathic familial (MIM#300582) Tags regulatory region