The Aphantasia‑Plus Hypothesis: A Polygenic Model of Neurodevelopmental Variation

Aphantasia—the congenital absence of voluntary visual imagery—is a neurocognitive phenotype affecting approximately 1–4% of the population. Twin studies estimate heritability at 0.41–0.66, and neuroimaging reveals large effect sizes for frontoparietal connectivity differences, supporting a polygenic neurodevelopmental origin. This paper presents an integrative synthesis from 2020–2025, combining findings from genomics, neurodevelopment, and cognitive neuroscience. Candidate genes affecting cortical patterning (CYP26B1, FOXG1, TCF4), synaptic scaffolding (SHANK3), and neurotransmitter systems (COMT, DRD4, HTR2A, OXTR, BDNF) produce an atypical cognitive architecture that disrupts visual-frontal integration but supports compensatory verbal-analytic strengths. The proposed “Aphantasia-Plus” phenotype includes enhanced reasoning, trauma resilience, and systemizing cognition. The model generates testable predictions for genetic scoring, neuroimaging, and education outcomes, and reframes aphantasia as a neurodivergent specialization rather than a deficit.