Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report

Tatton-Brown-Rahman syndrome (TBRS) is a rare overgrowth/intellectual disability disorder caused by DNMT3A variants. It is characterized by tall stature, macrocephaly, and intellectual disability, with an expanding neuropsychiatric spectrum that includes autism spectrum disorder (ASD) and behavioral disturbances. We describe a young adult Saudi male with overgrowth, macrocephaly, coarse facial features, and global developmental delay. Cognitive testing confirmed mild intellectual disability with…

via https://pubmed.ncbi.nlm.nih.gov/41384217/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1HYeX0emtvYgH07Wkz0a8n9otrdMd-JIklc_uo0I5vh1u9WMEy&fc=None&ff=20251213010805&v=2.18.0.post22+67771e2


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