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GENATLAS PHENOTYPE
last update : 28/08/2006
Symbol OSMED
Location 6p21.32
Name otospondylomegaepiphyseal dysplasia
Other name(s)
  • chondrodystrophy with neurosensory deafness
  • Nance-Insley syndrome
  • Nance-Sweeney chondrodysplasia
  • Corresponding gene COL11A2
    Main clinical features
  • flat face, severe neurosensory deafness, cleft palate and short limbs without ocular involvment
  • Genetic determination autosomal recessive
    Related entries . including Weissenbacher-Zweymüller syndrome (OMIM 277610)
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name collagen type XI, alpha 2 (COL11A2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   absent protein premature translation termination codon
    Remark(s)