Kabuki syndrome

A congenital syndrome characterized by neurodevelopmental dysfunction, DWARFISM, a FACIES with long palpebral fissures and eversion of the lateral third of the lower eyelids, and other anatomical abnormalities. A heterozygous mutation in the KMT2D gene is associated with Kabuki Syndrome-1 (OMIM: 147920). Mutations in the KDM6A gene have been associated with Kabuki Syndrome-2 (OMIM: 300867).

Also Known As:

Kabuki Make-Up Syndrome; Kabuki Makeup Syndrome; Kabuki make up syndrome; Niikawa-Kuroki syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Kabuki syndrome: 112
Body Regions
- Head
  - Face
    - Kabuki syndrome: 112
Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Kabuki syndrome: 112
Otorhinolaryngologic Diseases: 204
- Ear Diseases: 267
  - Labyrinth Diseases: 315
    - Vestibular Diseases: 48
      - Kabuki syndrome: 112

Bradley L Demarest Selected Research

Bradley L Demarest Research Topics

Disease

Drug/Important Bio-Agent (IBA)