KAT6A-oireyhtymä

KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6Agene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another. Neurodevelopmental disorders are ones that impair or alter the growth and development of the brain and the central nervous system. Common symptoms include varying degrees of intellectual disability, delays in reaching developmental milestones (developmental delays), delays in being able to speak (speech delays), and diminished muscle tone (hypotonia). Additional symptoms including abnormalities affecting the heart, eyes, and gastrointestinal system can also occur. In most instances, variations in the KAT6A gene occur spontaneously and there is no family history of the disorder (de novo variations). Treatment is based on the specific symptoms present in each individual.
Lähde: NORD