Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review.

doi:10.1002/ajmg.a.70163

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Article

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review.

American journal of medical genetics. Part A - 1 Sept 2026

Cinelli Giulia, Della Vecchia Stefania, Bergonzini Patrizia, Caramaschi Elisa, Spezia Elisabetta, Parenti Claudia, Madeo Simona Filomena, Lucaccioni Laura, Francesca Cavalleri, Pugliese Marisa, Raviglione Federico, Colonna Clara, Calabrese Olga, Stanghellini Ilaria, Marongiu Maria Carmen, Biagioni Enrico, Ferrari Anna Rita, Battini Roberta, Iughetti Lorenzo

Abstract excerpt

Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered "cardinal" signs of the disease. In a multicenter cross-sectional study, we analyzed the genetic, epileptological, behavioral, and neuroradiological features of 15 patients...

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PMID: 42059486
DOI: 10.1002/ajmg.a.70163

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AHDC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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