Disease #04657 (LMD (dysplasia, mesomelic, Langer (LMD)), OMIM:249700)

Official abbreviation LMD
Name dysplasia, mesomelic, Langer (LMD)
OMIM ID 249700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene SHOX
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00115130 - PubMed: Zinn 2002 - F - United States - - 0 - - LMD Langer mesomelic dysplasia (LMD) SHOX SHOX 2 1 Ralph Roeth
00115165 - PubMed: Zinn 2002 Patient has a second mutation in exon 4 c.487G>T [p.(Val163Phe)] - - United States - - 0 - - LMD Langer mesomelic dysplasia (LMD) SHOX SHOX 2 1 Ralph Roeth
00115230 - PubMed: Zinn 2002 inheritance familial, mother (LWD) with heterozygous SHOX del, father (Short Stature) with heterozygous mutation M no United States CaUnited Statessian - 0 - - LMD Langer mesomelic dysplasia (LMD) SHOX SHOX 1 2 Ralph Roeth
00115250 - Maria Baffico, Geneva, I, unpublished - - - Italy white - 0 - - LMD Langer mesomelic dysplasia (LMD) SHOX SHOX 1 1 Ralph Roeth
00115261 - J.Truebenbach, Bioscientia, Ingelheim, Germany, GFH Abstarctband 2008 page136 (http://www.gfhev.de/abstracts_kongresse/2008Abstracts.pdf) 3-generation family, 6 affecteds (3F, 3M) - yes Germany white - 0 - - LMD Langer mesomelic dysplasia (LMD) SHOX SHOX 1 6 Ralph Roeth
00115380 - PubMed: Sabherwal 2004 PubMed: Schneider 2005 3-generation family, mother and newborn male - yes Spain white - 0 - - LMD Langer mesomelic dysplasia (LMD), inheritance pattern pseudodominant SHOX SHOX 2 2 Ralph Roeth
00115381 - PubMed: Schneider 2005 3-generation family, affected child (SHOX nullizygosity) M no Japan - - 0 - - LMD Langer mesomelic dysplasia (LMD) SHOX SHOX 2 1 Johan den Dunnen
00115386 - PubMed: Shears 1998 3-generation family, affected fetus - no United Kingdom (Great Britain) white - 0 - - LMD Langer syndrome (LD) SHOX SHOX 2 1 Johan den Dunnen
00115387 - PubMed: Shears 1998 3-generation family, 4 affecteds - no United Kingdom (Great Britain) white - 0 - - LMD Langer mesomelic dysplasia (LMD) SHOX SHOX 1 4 Johan den Dunnen
00115515 23636926-Pat220 PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) - - 0 - - LMD see paper; … SHOX SHOX 1 1 Johan den Dunnen
00115526 23636926-Pa375 PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) - - 0 - - LMD see paper; … SHOX SHOX 1 1 Johan den Dunnen
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