biostudies-literatureAspromonte MCEuropean Reference Network on Rare Congenital Malformations and Rare Intellectual DisabilityEuropean Union-NextGenerationEU through 'Italiadomani-PNRR' project CN - G.T.RNA SP. 7 project - National Center for Gene Therapy and Drugs based on RNA Technology (CN3)Università degli Studi di PadovaEuropean Union—NextGenerationEU through ‘Italiadomani—PNRR’ project CN - G.T.RNA SP. 7 project - National Center for Gene Therapy and Drugs based on RNA Technology309-326https://www.ebi.ac.uk/biostudies/studies/S-EPMC11976335biostudies-literatureUnknown144(2-3)Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic variants and phenotypic manifestations in neurodevelopmental disorders, presenting a dataset curated for the Critical Assessment of Genome Interpretation (CAGI6) ID Panel Challenge. The CAGI6 competition serves as a platform for evaluating the efficacy of computational methods in predicting phenotypic outcomes from genetic data. In this study, a targeted gene panel sequenciHuman geneticsGenetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.PMC11976335MUR CN00000041, C.F. 923157002833HP-HP-FPA ERN-01-2016/739516Granocchio ED'Arrigo SMammi ILeonardi EBettella ENosadini MAspromonte MCMilani DSoli FMurgia ABenedicenti FCiaccio CDel Conte ABigoni SBoni SNegrin SStanzial FTosatto SCEDonati IPolli RTurolla LPiovesan DBaldo DfalseGenetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic variants and phenotypic manifestations in neurodevelopmental disorders, presenting a dataset curated for the Critical Assessment of Genome Interpretation (CAGI6) ID Panel Challenge. The CAGI6 competition serves as a platform for evaluating the efficacy of computational methods in predicting phenotypic outcomes from genetic data. In this study, a targeted gene panel sequenci2025-01-01T00:00:00Z2025 Mar2026-06-01T20:14:33.075Z2026-05-20T03:08:27.907ZS-EPMC119763354001950910.1007/s00439-025-02733-1