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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 
    ... Brown MR, Huygen PL, Smith RJ, Cremers CW. Autosomal dominant inherited hearing impairment caused by a missense mutation ... ML, Bonaventure J, Miny P, Ala-Kokko L. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics