Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

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This study identifies mutations in the DPYSL5 gene that cause brain development problems—including missing or underdeveloped connections between brain hemispheres and cerebellar differences—alongside intellectual disability, which may be relevant to families with 16p11.2 conditions who experience similar brain structural findings.