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Results 1 - 10 of 16 for "Rubinstein-Taybi" syndrome
  1. Rubinstein-Taybi syndrome 
    Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  2. Rubinstein-Taybi syndrome 
    Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, ...
    https://medlineplus.gov/ency/article/001249.htm - Medical Encyclopedia
  3. CREBBP gene 
    ... the CREBBP gene have been found to cause Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to ... the CREBBP gene is altered in people with Rubinstein-Taybi syndrome, their cells make only half of the normal ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  4. EP300 gene 
    ... EP300 gene have been identified in people with Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to ... this protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that changes in the EP300 ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
  5. Chromosome 16 
    ... About This Health Condition Some cases of severe Rubinstein-Taybi syndrome (sometimes known as chromosome 16p13.3 deletion syndrome) ... also have many of the typical features of Rubinstein-Taybi syndrome, including intellectual disability, distinctive facial features, and broad ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  6. Developmental Disabilities (National Library of Medicine)  
    What are developmental disabilities? Developmental disabilities are conditions that are usually present at birth. They can affect a child's growth and ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  7. Epicanthal folds 
    ... Turner syndrome Phenylketonuria (PKU) Williams syndrome Noonan syndrome Rubinstein-Taybi syndrome Blepharophimosis syndrome
    https://medlineplus.gov/ency/article/003030.htm - Medical Encyclopedia
  8. Polydactyly 
    ... chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Trisomy 13
    https://medlineplus.gov/ency/article/003176.htm - Medical Encyclopedia
  9. Frontal bossing 
    ... Cleidocranial dysostosis Crouzon syndrome Hurler syndrome Pfeiffer syndrome Rubinstein-Taybi syndrome Silver-Russell syndrome Use of the antiseizure drug ...
    https://medlineplus.gov/ency/article/003301.htm - Medical Encyclopedia
  10. Low-set ears and pinna abnormalities 
    ... malformed ears include: Beckwith-Wiedemann syndrome Potter syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Treacher Collins syndrome Trisomy ...
    https://medlineplus.gov/ency/article/003303.htm - Medical Encyclopedia
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