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Results 1 - 5 of 5 for Kabuki syndrome
  1. Kabuki syndrome 
    Kabuki syndrome is a disorder that can affect many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  2. KMT2D gene 
    ... KMT2D gene have been identified in people with Kabuki syndrome, a disorder characterized by distinctive facial features, intellectual ... the body.The KMT2D gene variants associated with Kabuki syndrome change one building block (amino acid) in the ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  3. KDM6A gene 
    ... KDM6A gene have been identified in people with Kabuki syndrome, a disorder characterized by distinctive facial features, intellectual ... Most of the KDM6A gene variants associated with Kabuki syndrome remove (delete) genetic material in the KDM6A gene ...
    https://medlineplus.gov/genetics/gene/kdm6a - Genetics
  4. Patient support and advocacy groups 
    ... Frase Foundation Joubert Syndrome and Related Disorders Foundation Kabuki Syndrome Foundation Kabuki Syndrome Network KBG Foundation Kennedy Disease Association Kennedy's Disease ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  5. 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