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Results 1 - 10 of 12 for Stickler syndrome
  1. Stickler syndrome 
    Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. COL2A1 gene 
    ... COL2A1 gene are the most common cause of Stickler syndrome. People with this condition are typically of average ... Several of the COL2A1 gene variants that cause Stickler syndrome create a premature stop signal in the instructions ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. COL11A1 gene 
    ... 10 to 20 percent of all cases of Stickler syndrome. Signs and symptoms of this condition include a ... gene variants have been found in people with Stickler syndrome. Some of these variants change single protein building ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  4. COL11A2 gene 
    ... syndrome (described below) and to a form of Stickler syndrome classified as type III. In some cases, it ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition At least one ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  5. COL9A1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type ... Cremers FP, van den Born LI. Autosomal recessive Stickler syndrome in two families is caused by mutations in ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  6. Weissenbacher-Zweymüller syndrome 
    ... of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused ... syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet. 1998 Nov 2;80( ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  7. COL9A3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 3 type ... Biskup S, Esposito L, Gasparini P. Autosomal recessive Stickler syndrome due to a loss of function mutation in ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  8. COL9A2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  9. Otospondylomegaepiphyseal dysplasia 
    ... of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
  10. Nonsyndromic hearing loss 
    ... others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in ...
    https://medlineplus.gov/genetics/condition/nonsyndromic-hearing-loss - Genetics
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