Disease #04658 (LWD (dyschondrosteosis, Leri-Weill (LWD)), OMIM:127300)

Official abbreviation LWD
Name dyschondrosteosis, Leri-Weill (LWD)
OMIM ID 127300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 206
Phenotype entries for this disease 194
Associated with 1 gene SHOX
Associated tissues -
Disease features -
Remarks -


Individuals

206 entries on 3 pages. Showing entries 1 - 100.
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00115075 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115076 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115077 - PubMed: Flanagan 2002 3-generation family, 5 affecteds (3F, 2M) - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) SHOX SHOX 1 4 Ralph Roeth
00115078 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115079 - PubMed: Huber 2001 inheritance familial - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115083 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115084 - PubMed: Grigelioniene 2001 inheritance familial, found in unaffected mother - - Syria white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115085 - PubMed: Grigelioniene 2001 4-generation family, several affecteds - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115087 - PubMed: Grigelioniene 2000 inheritance familial, found in affected father M - Finland white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115088 - PubMed: Rappold 2007 - M - Netherlands white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115089 - SHOX Lab Heidelberg, unpublished 3-generation family, several affecteds F - Netherlands white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115095 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115097 - SHOX Lab Heidelberg, unpublished Patient, mother and sister with Crouzon and LWD - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115099 - SHOX Lab Heidelberg, unpublished - - - Belgium;France;Germany;Italy;Spain;Sweden;Switzerland;Croatia (Hrvatska);Netherlands white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 33 Ralph Roeth
00115103 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115107 - SHOX Lab Heidelberg, unpublished - - - Germany;Spain;Hungary;Turkey;Croatia (Hrvatska);Czech Republic;Canada;United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115108 - PubMed: Flanagan 2002 2-generation family, 3 affecteds (3F) - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) SHOX SHOX 1 2 Ralph Roeth
00115109 - PubMed: Grigelioniene 2001 - - - Sweden white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115111 - PubMed: Benito-Sanz 2006 - - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115112 - SHOX Lab Heidelberg, unpublished inheritance familial, mother affected - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115114 - PubMed: Bunyan 2013 - - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115117 - SHOX Lab Heidelberg, unpublished inheritance familial and unknown - - Belgium;Canada;Croatia (Hrvatska);Czech Republic;France;Germany;Hungary;India;Poland;Russia;Spain;Turkey;United States white - 0 - - LWD - SHOX SHOX 1 4 Ralph Roeth
00115118 - PubMed: Grigelioniene 2001 - - - - white - 0 - - LWD - SHOX SHOX 1 4 Ralph Roeth
00115120 - PubMed: Flanagan 2002 3-generation family, 9 affecteds (6F, 3M) - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) SHOX SHOX 1 9 Ralph Roeth
00115122 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115123 - PubMed: Binder 2004 2-generation family, affected father and 2 sibs - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115124 - PubMed: Huber 2001 inheritance familial - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115125 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115128 - Maria Baffico,Genova, Italy, unpublished inheritance familial - - Denmark white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115131 - PubMed: Bunyan 2013 - - - - white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115132 - PubMed: Binder 2004 inheritance familial, mother and sib affected - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115133 - PubMed: Ross 2001 inheritance familial, found in affected father - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115135 - PubMed: Falcinelli 2002 - - - Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115136 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115137 - SHOX Lab Heidelberg, unpublished inheritance familial, found in affected father F - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115138 - PubMed: Grigelioniene 2001 inheritance familial, found in affected mother - - Sweden white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115139 - PubMed: Ross 2001 inheritance familial, father and sister affected - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115140 - PubMed: Schneider 2005, {Montalbano 2016 in press} inheritance familial, found in affected mother M - Finland white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115141 - PubMed: Schneider 2005, {Montalbano 2016 in press} inheritance familial, father and sib affected - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115142 - SHOX Lab Heidelberg, unpublished inheritance familial, found in unaffected mother and brother - - Turkey white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115147 - PubMed: Binder 2004 inheritance familial, found in affected mother - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115148 - PubMed: Schneider 2005 inheritance familial F - Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115149 - PubMed: Schneider 2005 - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115155 - PubMed: Ross 2005 - - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115157 - PubMed: Rappold 2007 - - - Russia white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115158 - PubMed: Huber 2001 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115160 - SHOX Lab Heidelberg, unpublished inheritance familial, found in affected mother - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115161 - PubMed: Falcinelli 2002 inheritance familial - - Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115166 - PubMed: Schneider 2005 - M - Finland white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115167 - PubMed: Schneider 2005 inheritance familial, found in affected mother - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115168 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115171 - PubMed: Huber 2001 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115172 - PubMed: Binder 2004, {Montalbano 2016 in press} inheritance familial, found in affected mother - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 5 Ralph Roeth
00115178 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115182 - PubMed: Bunyan 2013 - - - (United Kingdom (Great Britain)) - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115183 - PubMed: Schneider 2005 inheritance familial, found in affected mother - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115187 - PubMed: Schneider 2005 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115190 - PubMed: Sabherwal 2004 PubMed: Schneider 2005 5-generation family, 11 affecteds (7F, 4M) with LWD and 4 affecteds (3F, 1M) with LD - yes Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), Langer dysplasia (LD) SHOX SHOX 1 15 Ralph Roeth
00115192 - PubMed: Sabherwal 2004 PubMed: Schneider 2005 - - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115193 - PubMed: Sabherwal 2004 PubMed: Schneider 2005 inheritance familial, mother and 3 sibs affected - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 4 Ralph Roeth
00115195 - PubMed: Schneider 2005 - - - Canada white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115196 - PubMed: Schneider 2005 - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115207 - PubMed: Belin 1998 3-generation family, 8 affecteds (5F, 3M) - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 8 Ralph Roeth
00115208 - PubMed: Clement - Jones 2000 - F - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115209 - PubMed: Flanagan 2002 - - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) SHOX SHOX 1 1 Ralph Roeth
00115210 - PubMed: Ross 2001 inheritance 1 familial (2doughter's and mother) - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115211 - PubMed: Grigelioniene 2001 - - - Sweden white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115213 - PubMed: Fukami 2004 - - - Japan Asian - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115215 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115219 - SHOX Lab Heidelberg, unpublished inheritance familial, Mother LWS, Index Patient ISS, Cousin normal - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), extremly painful Madelung Deformity, SHOX SHOX 1 5 Ralph Roeth
00115231 - PubMed: Grigelioniene 2001 - - - Syria white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115234 - PubMed: Huber 2006 - - - France white - 0 - - LWD - SHOX SHOX 1 1 Ralph Roeth
00115237 - PubMed: Binder 2004 inheritance familial, found in affected mother M - - white - 0 - - LWD - SHOX SHOX 1 2 Ralph Roeth
00115238 - PubMed: Flanagan 2002 - - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) SHOX SHOX 1 1 Ralph Roeth
00115239 - SHOX Lab Heidelberg, unpublished inheritance familial and unknown cases - - Germany;France;Italy;Russia;Turkey;Netherlands;Croatia (Hrvatska);Japan white;Asian - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 66 Ralph Roeth
00115241 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115245 - PubMed: Flanagan 2002 - - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) SHOX SHOX 1 1 Ralph Roeth
00115246 - SHOX Lab Heidelberg, unpublished inheritance familial and unknown cases - - Germany;France;Italy;Sweden;Russia;Belgium;Spain;Austria;Turkey;Netherlands white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 63 Ralph Roeth
00115247 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115248 - PubMed: Ross 2005 inheritance familial, found in cousin - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115251 - Maria Baffico, Geneva, I, unpublished - - - Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115253 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115254 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115255 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115257 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115259 23636926-Pat91 PubMed: Bunyan 2013 inheritance familial - - Denmark white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD); see paper; ... SHOX SHOX 2 1 Ralph Roeth
00115260 - Simon Thomas, Salisbury, UK, unpublished - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115262 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115263 - PubMed: Schneider 2005 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115264 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115265 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 2 Ralph Roeth
00115266 - PubMed: Sabherwal 2004 PubMed: Schneider 2005 strong familial history of LWD - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115267 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115268 - PubMed: Bunyan 2013 - - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115273 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 1 Ralph Roeth
00115275 - Dr. Ranke, T┬čbingen, Germany, pers. comm. found in unaffected father - - Germany white - 0 - - LWD - SHOX SHOX 1 1 Ralph Roeth
00115277 - SHOX Lab Heidelberg, unpublished - - - Germany;Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 4 Ralph Roeth
00115278 - SHOX Lab Heidelberg, unpublished - - - Germany;Italy;Sweden white - 0 - - LWD - SHOX SHOX 1 10 Ralph Roeth
00115279 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 3 Ralph Roeth
00115280 - SHOX Lab Heidelberg, unpublished - - - Germany;Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) SHOX SHOX 1 6 Ralph Roeth
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