KDM5A-related neurodevelopmental disorder is caused by mutations in one or two copies of the KDM5A gene that disrupt its function. The KDM5A gene encodes a protein that functions as an enzyme to modify DNA and control the level of other genes. When the function of KDM5A is disrupted, brain development is impaired, leading to autism, intellectual disability, developmental delay, and lack of speech, among other clinical features.
KDM5A