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Article

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.

Clinical genetics - 1 Mar 2025

Graziani Ludovico, Carriero Miriam Lucia, Ferradini Valentina, Conte Chiara, Bengala Mario, Sangiuolo Federica Carla, Novelli Giuseppe

Abstract excerpt

WDFY3 (MIM#617485) defects may manifest neurodevelopmental disorders (NDDs) and opposite effects on brain size based on allelic effect. This case highlights a heterozygous WDFY3 nonsense variant linked to mild-to-moderate NDDs, macrocephaly, and unique facial features. Findings emphasize the importance of exome sequencing in NDDs for accurate diagnosis and clinical management.

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PMID: 39614649
DOI: 10.1111/cge.14665

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

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