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Results 1 - 5 of 5 for Kabuki "make-up" syndrome
  1. Kabuki syndrome 
    ... have inherited the variant from one affected parent. Kabuki make-up syndrome Kabuki makeup syndrome KMS Niikawa-Kuroki syndrome Genetic Testing ...
    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)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics