Kevin and Amy Young, parents of a young boy (Jack) who has KAT6A syndrome, provide an overview of the disease.
As Mr. and Mrs. Young explain, KAT6A syndrome is an ultra-rare genetic condition caused by a mutation in the KAT6A gene. In most cases this mutation is de novo.
KAT6A syndrome patients vary widely in terms of symptomatology but common symptoms include developmental delay, intellectual disability, gastrointestinal problems (e.g., feeding difficulties, constipation, acid reflux), speech and language deficits, vision problems, and hypotonia.
For more information about KAT6A syndrome, visit www.kat6a.org
For more information about this and rare genetic conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/
