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Article

TRMT10A-Related Neurodevelopmental Disorder Without Metabolic Findings.

Human mutation - 1 Jan 2026

Ülker Üstebay Döndü, Aksu Şahin İrem, Üstebay Sefer, Ünsel Bolat Gül, Bolat Hilmi

Abstract excerpt

TRMT10A is a tRNA methyltransferase gene associated with a rare autosomal recessive disorder characterized by microcephaly, intellectual disability, epilepsy, short stature, and abnormalities in glucose metabolism. Although an increasing number of patients have been reported, the extent of phenotypic variability and genotype-phenotype correlations remains incompletely understood. We report a 15-year-old male...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42181738
DOI: 10.1155/humu/8058409
PMCID: PMC13197617

Genes

TRMT10A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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