Article

Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulation

2026-04-03

Abstract excerpt

Biallelic variants in genes regulating endosomal, lysosomal and autophagy pathways are increasingly implicated in severe neurodevelopmental disorders, yet the contribution of the Rab7 effector WDR91 to human disease remains incompletely defined. We report a child with a severe neurodevelopmental disorder characterized by progressive microcephaly, microlissencephaly, corpus callosum hypoplasia, and early-onset epil...

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Literature Corpus work: 344e74ca-4991-5a21-acd2-60f84a139eb5
DOI: 10.64898/2026.04.03.26349989

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