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This is a Case Report study (also classified as: Literature Review).

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature

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Case report highlights developmental regression and intellectual disability due to a WDR81 mutation, suggesting its role in neurodevelopment.

Both siblings exhibited significant neurodevelopmental issues linked to the WDR81 mutation, emphasizing its clinical significance.
Genetic testing confirmed the pathogenic variant in both sisters, supporting the role of WDR81 in neurodevelopment.
The older sister showed more severe symptoms than the younger, indicating variability in phenotypic expression of WDR81 disorders.
This case adds to the literature and knowledge of WDR81-related syndromes, highlighting the need for further research.

Öztürk et al. (2025) studied this question.

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Case report highlights developmental regression and intellectual disability due to a WDR81 mutation, suggesting its role in neurodevelopment.