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Article

Delineating the Adult Phenotype of PGM2L1 -Related Neurodevelopmental Disorder.

American journal of medical genetics. Part A - 1 Mar 2026

Ercoskun Pelin, Akbulut Ekrem, Yavas Cuneyd, Yilmaz Celik Lale, Dogan Mustafa

Abstract excerpt

PGM2L1 is a crucial enzyme exhibiting glucose 1,6-bisphosphate synthase activity, with predominant expression in brain tissue. In 2021, biallelic pathogenic variants in the PGM2L1 gene were first linked to a neurodevelopmental disorder characterized primarily by developmental delay in four pediatric cases. In this study, we aimed to delineate the adult phenotype associated with the PGM2L1-related...

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Identifiers

PMID: 41178743
DOI: 10.1002/ajmg.a.64293

Genes

PGM2L1

Variants

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