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Results 1 - 7 of 7 for Short thumb
  1. EP300 gene 
    ... with Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Genetic changes in the EP300 ...
    https://medlineplus.gov/genetics/gene/ep300 - Genetics
  2. CREBBP gene 
    ... cause Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. More than 300 mutations have ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
  3. NOG gene 
    ... loss due to stapes fixation, farsightedness, and broad thumbs and big toes. ... characterized by short fingers and toes, which occurs because the middle ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  4. RECQL4 gene 
    ... of certain skull bones (craniosynostosis), small stature, missing thumbs or bones in ... diarrhea, and short stature. The condition was first identified in Finland, ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  5. SALL1 gene 
    ... role in development of the hands (particularly the thumbs), ears, anus, kidneys, and other parts of the ... disorder lead to the production of an abnormally short version of the SALL1 protein that malfunctions within ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  6. GLI3 gene 
    ... is characterized by extra digits next to the thumb or big toe (hallux) and fused skin between ...
    https://medlineplus.gov/genetics/gene/gli3 - Genetics
  7. SF3B4 gene 
    ... small lower jaw (micrognathia), and malformed or absent thumbs. The condition can also affect development of other ... well as lung abnormalities. Affected individuals have abnormally short arm bones, such that the hands are located ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics