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Phenotypic Signatures of CTNNB1 Syndrome: Longitudinal Neuropsychological Outcomes and Three-Dimensional Facial Morphology

2026-02-05 genetic and genomic medicine Title + abstract only
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CTNNB1 syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the CTNNB1 gene. Although its core clinical manifestations have been increasingly recognised, longitudinal data on cognitive, behavioural and motor trajectories remain limited, and the craniofacial phenotype has not previously been quantitatively characterised. This study provides longitudinal evidence on the cognitive, clinical and psychological profile of individuals with CTNNB1 syndrome, together with a det...

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