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GENATLAS PHENOTYPE
last update : 27/07/2006
Symbol MMDL
Location Xp22.33
Name Langer mesomelic dysplasia
Other name(s)
  • dyschondrosteosis, homozygous
  • mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type
    • Corresponding gene SHOX
    Main clinical features hypoplastic ulna, fibula and mandible
    Genetic determination autosomal recessive
    sex linked
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name short stature homeo box containing gene (SHOX)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   absent protein  
    Remark(s)