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GENATLAS PHENOTYPE
last update : 29-03-2014
Symbol DSBQS
Location 17q25.3
Name Desbuquois syndrome
Other name(s)
  • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
  • Corresponding gene CANT1
    Other symbol(s) DBQD
    Main clinical features
  • short stature, joint laxity, facial dysmorphism, advanced carpal and tarsal bone age, narrow chest, vertebral and metaphyseal abnormalities, hand abnormalities (phalangeal dislocations and extraossification distal to the second metacarpal ), in type 1, normal hand in type2
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function  
    Remark(s)