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Article

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.

Journal of neurodevelopmental disorders - 10 Jul 2026

Savasta Salvatore, Comisi Francesco Fabrizio, Dell'Isola Giovanni Battista, Di Pasquale Gabriele, Johnson Ivy, Herman Isabella, Comisi Andrea Maria, Operto Francesca Felicia, Bargiacchi Giuditta, Barge-Schaapveld Daniëla Q C M, Mangano Giuseppe Donato, Carotenuto Marco, Salpietro Vincenzo, Verrotti Alberto

Abstract excerpt

BACKGROUND: Heterozygous variants in FBXW7 have recently been recognized as a cause of a rare neurodevelopmental disorder with variable developmental delay, neurological manifestations, and multisystem involvement. The breadth of clinical variability and penetrance remains incompletely defined. CASES PRESENTATION: We report a retrospective multicenter case series of seven previously unreported individuals (five...

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Identifiers

PMID: 42432493
DOI: 10.1186/s11689-026-09705-0
PMCID: PMC13352821

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