What question did this study set out to answer?

To identify and report a homozygous variant in the PGM2L1 gene linked to developmental delay and seizures.

March 6, 2026

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures.

Key Points

To identify and report a homozygous variant in the PGM2L1 gene linked to developmental delay and seizures.
Genetic analysis of the patient
Comparison with previously reported variants
Clinical assessment of symptoms
Identification of a homozygous PGM2L1 variant
Confirmation of association with early-onset developmental delay
Recognition of seizures as a related symptom

Abstract

Our study was the second report of a PGM2L1 gene variant associated with early-onset developmental delay and seizures, further expanding the genetic spectrum of this disorder.

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