Article

Age-aware genotype–phenotype architecture across 87 genetic neurodevelopmental disorders

2025-12-02

Abstract excerpt

Neurodevelopmental disorders (NDDs) are clinically heterogeneous, multisystem disorders, making prognosis challenging, even after a molecular diagnosis is obtained. In this study, we assembled a harmonized, age-aware genotype–phenotype atlas using data from the Simons Searchlight cohort. We analyzed 1,210 probands with pathogenic variants across 87 NDDs (75 gene, 12 recurrent copy-number variant disorders). Mappin...

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Literature Corpus work: ef7f8bf5-13e9-57f0-b778-335376a0b016
DOI: 10.64898/2025.11.29.25341264

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