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Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

Mehmet Burak Mutlu Abdullah Sezer Elif Özdemir Ayşe Kaçar Bayram D. Güven Şükriye Yılmaz Nil Sazlı Deniz Karataş Emine Öz Zeynep Bayramlar Özlem Öz
Aug 2026 · Journal of Human Genetics · 0 citations · 40 references
Medicine

TL;DR

Findings support a dose-dependent SLC20A2 disease spectrum and expand the phenotype associated with biallelic loss of function from primary brain calcification toward severe early-onset neurodevelopmental disorder with prominent vascular and leptomeningeal calcification.

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