otospondylomegaepiphyseal dysplasia (Q7109017)

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osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss
  • CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
  • NANCE-INSLEY SYNDROME
  • NANCE-SWEENEY CHONDRODYSPLASIA
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English
otospondylomegaepiphyseal dysplasia
osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss
  • CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
  • NANCE-INSLEY SYNDROME
  • NANCE-SWEENEY CHONDRODYSPLASIA

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