GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Langer Mesomelic Dysplasia Syndrome(Dyschondrosteosis, homozygous)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 SHOX/6473 SHOX homeobox Xp22.33;Yp11.2 ChrX, NC_000023.11
(624344..659411)
35068 nt 7 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities