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SUPT16H-related neurodevelopmental disorder is a rare, predominantly de novo autosomal dominant condition caused by heterozygous variants in SUPT16H. Fewer than 30 individuals have been reported, including unpublished data in progress. Affected individuals typically present with global developmental delay, intellectual disability, and autism spectrum features. Speech and language delay are nearly universal, while hypotonia is frequent and epilepsy occurs in a minority.

Brain MRI anomalies in about half include hypoplastic corpus callosum, and mild cerebral atrophy. Additional findings may include craniofacial dysmorphisms, GI/GU anomalies, and occasional endocrine or cardiac defects. The phenotype reflects the gene’s critical role in transcriptional regulation and chromatin organization during human neurodevelopment.