Kabuki Syndrome (KDM6A mutation)

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. To date, changes (mutation) in one of two genes leads to Kabuki syndrome.

Reference: Rare Diseases (NORD)