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Results 1 - 4 of 4 for Otospondylomegaepiphyseal "dysplasia," autosomal dominant
  1. Weissenbacher-Zweymüller syndrome 
    ... in their family. Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia, autosomal dominant Pierre Robin syndrome with fetal chondrodysplasia WZS Genetic ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  2. Stickler syndrome 
    ... Hereditary arthro-ophthalmopathy Stickler dysplasia Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Marshall syndrome Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  3. Otospondylomegaepiphyseal dysplasia 
    ... OSMED Oto-spondylo-megaepiphyseal dysplasia Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
  4. COL11A2 gene 
    ... DFNA13 and DFNB53.DFNA13 is inherited in an autosomal dominant pattern, which means only one mutated copy of ... Brown MR, Huygen PL, Smith RJ, Cremers CW. Autosomal dominant inherited hearing impairment caused by a missense mutation ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics