Article
The social behavioral phenotype of Kabuki syndrome.
Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists - 9 Sept 2026
Ng Rowena, Fanara Philip, Meier Lauren, Harris Jacqueline
Abstract excerpt
OBJECTIVE: This study describes the social-communication and behavioral profile associated with Kabuki syndrome (KS), including exploratory comparisons between individuals with a pathogenic variant in KMT2D (KS1) versus KDM6A (KS2). METHOD: Thirty-five caregivers of children/adults with KS (25F, Mage = 13.45, SD = 7.60) completed the Social Responsiveness Scale 2nd Edition (SRS-2), Colorado Learning Difficulties...
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- Humans
- Vestibular Diseases
- Hematologic Diseases
- Face
- Abnormalities, Multiple
- Male
- Female